SNP Links for Protein (Select 998429224) - SNP

Select item 14895925361.

rs1489592536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:74138139 (GRCh38)
10:75897897 (GRCh37)
Canonical SPDI:: NC_000010.11:74138138:C:A,NC_000010.11:74138138:C:T
Gene:: AP3M1 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.74138139C>A, NC_000010.11:g.74138139C>T, NC_000010.10:g.75897897C>A, NC_000010.10:g.75897897C>T, NM_012095.6:c.241G>T, NM_012095.6:c.241G>A, NM_012095.5:c.241G>T, NM_012095.5:c.241G>A, NM_012095.4:c.241G>T, NM_012095.4:c.241G>A, NM_207012.4:c.241G>T, NM_207012.4:c.241G>A, NM_207012.3:c.241G>T, NM_207012.3:c.241G>A, NM_207012.2:c.241G>T, NM_207012.2:c.241G>A, NM_001320264.2:c.241G>T, NM_001320264.2:c.241G>A, NM_001320264.1:c.241G>T, NM_001320264.1:c.241G>A, NM_001320263.2:c.241G>T, NM_001320263.2:c.241G>A, NM_001320263.1:c.241G>T, NM_001320263.1:c.241G>A, XM_024447939.2:c.241G>T, XM_024447939.2:c.241G>A, XM_024447939.1:c.241G>T, XM_024447939.1:c.241G>A, NR_135191.2:n.318G>T, NR_135191.2:n.318G>A, NR_135191.1:n.575G>T, NR_135191.1:n.575G>A, NM_001320265.2:c.241G>T, NM_001320265.2:c.241G>A, NM_001320265.1:c.241G>T, NM_001320265.1:c.241G>A, XM_047425054.1:c.241G>T, XM_047425054.1:c.241G>A, NP_036227.1:p.Glu81Ter, NP_036227.1:p.Glu81Lys, NP_996895.1:p.Glu81Ter, NP_996895.1:p.Glu81Lys, NP_001307193.1:p.Glu81Ter, NP_001307193.1:p.Glu81Lys, NP_001307192.1:p.Glu81Ter, NP_001307192.1:p.Glu81Lys, XP_024303707.1:p.Glu81Ter, XP_024303707.1:p.Glu81Lys, NP_001307194.1:p.Glu81Ter, NP_001307194.1:p.Glu81Lys, XP_047281010.1:p.Glu81Ter, XP_047281010.1:p.Glu81Lys

Select item 14887693992.

rs1488769399 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 10:74136766 (GRCh38)
10:75896524 (GRCh37)
Canonical SPDI:: NC_000010.11:74136765:T:A,NC_000010.11:74136765:T:G
Gene:: AP3M1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.74136766T>A, NC_000010.11:g.74136766T>G, NC_000010.10:g.75896524T>A, NC_000010.10:g.75896524T>G, NM_012095.6:c.311A>T, NM_012095.6:c.311A>C, NM_012095.5:c.311A>T, NM_012095.5:c.311A>C, NM_012095.4:c.311A>T, NM_012095.4:c.311A>C, NM_207012.4:c.311A>T, NM_207012.4:c.311A>C, NM_207012.3:c.311A>T, NM_207012.3:c.311A>C, NM_207012.2:c.311A>T, NM_207012.2:c.311A>C, NM_001320264.2:c.311A>T, NM_001320264.2:c.311A>C, NM_001320264.1:c.311A>T, NM_001320264.1:c.311A>C, NM_001320263.2:c.311A>T, NM_001320263.2:c.311A>C, NM_001320263.1:c.311A>T, NM_001320263.1:c.311A>C, XM_024447939.2:c.311A>T, XM_024447939.2:c.311A>C, XM_024447939.1:c.311A>T, XM_024447939.1:c.311A>C, NR_135191.2:n.388A>T, NR_135191.2:n.388A>C, NR_135191.1:n.645A>T, NR_135191.1:n.645A>C, XM_047425054.1:c.311A>T, XM_047425054.1:c.311A>C, NP_036227.1:p.Asp104Val, NP_036227.1:p.Asp104Ala, NP_996895.1:p.Asp104Val, NP_996895.1:p.Asp104Ala, NP_001307193.1:p.Asp104Val, NP_001307193.1:p.Asp104Ala, NP_001307192.1:p.Asp104Val, NP_001307192.1:p.Asp104Ala, XP_024303707.1:p.Asp104Val, XP_024303707.1:p.Asp104Ala, XP_047281010.1:p.Asp104Val, XP_047281010.1:p.Asp104Ala

Select item 14874875243.

rs1487487524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:74134144 (GRCh38)
10:75893902 (GRCh37)
Canonical SPDI:: NC_000010.11:74134143:T:C
Gene:: AP3M1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.74134144T>C, NC_000010.10:g.75893902T>C, NM_012095.6:c.466A>G, NM_012095.5:c.466A>G, NM_012095.4:c.466A>G, NM_207012.4:c.466A>G, NM_207012.3:c.466A>G, NM_207012.2:c.466A>G, NM_001320264.2:c.466A>G, NM_001320264.1:c.466A>G, NM_001320263.2:c.466A>G, NM_001320263.1:c.466A>G, XM_024447939.2:c.466A>G, XM_024447939.1:c.466A>G, NR_135191.2:n.543A>G, NR_135191.1:n.800A>G, NM_001320265.2:c.304A>G, NM_001320265.1:c.304A>G, XM_047425054.1:c.466A>G, NP_036227.1:p.Thr156Ala, NP_996895.1:p.Thr156Ala, NP_001307193.1:p.Thr156Ala, NP_001307192.1:p.Thr156Ala, XP_024303707.1:p.Thr156Ala, NP_001307194.1:p.Thr102Ala, XP_047281010.1:p.Thr156Ala

Select item 14874402434.

rs1487440243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:74136773 (GRCh38)
10:75896531 (GRCh37)
Canonical SPDI:: NC_000010.11:74136772:T:C
Gene:: AP3M1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.74136773T>C, NC_000010.10:g.75896531T>C, NM_012095.6:c.304A>G, NM_012095.5:c.304A>G, NM_012095.4:c.304A>G, NM_207012.4:c.304A>G, NM_207012.3:c.304A>G, NM_207012.2:c.304A>G, NM_001320264.2:c.304A>G, NM_001320264.1:c.304A>G, NM_001320263.2:c.304A>G, NM_001320263.1:c.304A>G, XM_024447939.2:c.304A>G, XM_024447939.1:c.304A>G, NR_135191.2:n.381A>G, NR_135191.1:n.638A>G, XM_047425054.1:c.304A>G, NP_036227.1:p.Ile102Val, NP_996895.1:p.Ile102Val, NP_001307193.1:p.Ile102Val, NP_001307192.1:p.Ile102Val, XP_024303707.1:p.Ile102Val, XP_047281010.1:p.Ile102Val

Select item 14817797895.

rs1481779789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:74124434 (GRCh38)
10:75884192 (GRCh37)
Canonical SPDI:: NC_000010.11:74124433:C:A
Gene:: AP3M1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.74124434C>A, NC_000010.10:g.75884192C>A, NM_012095.6:c.1102G>T, NM_012095.5:c.1102G>T, NM_012095.4:c.1102G>T, NM_207012.4:c.1102G>T, NM_207012.3:c.1102G>T, NM_207012.2:c.1102G>T, NM_001320264.2:c.1102G>T, NM_001320264.1:c.1102G>T, NM_001320263.2:c.1102G>T, NM_001320263.1:c.1102G>T, XM_024447939.2:c.1102G>T, XM_024447939.1:c.1102G>T, NR_135191.2:n.1201G>T, NR_135191.1:n.1458G>T, NM_001320265.2:c.940G>T, NM_001320265.1:c.940G>T, XM_047425054.1:c.*38G>T, NP_036227.1:p.Glu368Ter, NP_996895.1:p.Glu368Ter, NP_001307193.1:p.Glu368Ter, NP_001307192.1:p.Glu368Ter, XP_024303707.1:p.Glu368Ter, NP_001307194.1:p.Glu314Ter

Select item 14782670156.

rs1478267015 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:74136695 (GRCh38)
10:75896454 (GRCh37)
Canonical SPDI:: NC_000010.11:74136695:A:AA
Gene:: AP3M1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.74136696dup, NC_000010.10:g.75896454dup, NM_012095.6:c.381dup, NM_012095.5:c.381dup, NM_012095.4:c.381dup, NM_207012.4:c.381dup, NM_207012.3:c.381dup, NM_207012.2:c.381dup, NM_001320264.2:c.381dup, NM_001320264.1:c.381dup, NM_001320263.2:c.381dup, NM_001320263.1:c.381dup, XM_024447939.2:c.381dup, XM_024447939.1:c.381dup, NR_135191.2:n.458dup, NR_135191.1:n.715dup, XM_047425054.1:c.381dup, NP_036227.1:p.Asn128Ter, NP_996895.1:p.Asn128Ter, NP_001307193.1:p.Asn128Ter, NP_001307192.1:p.Asn128Ter, XP_024303707.1:p.Asn128Ter, XP_047281010.1:p.Asn128Ter

Select item 14773377467.

rs1477337746 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 10:74138110 (GRCh38)
10:75897868 (GRCh37)
Canonical SPDI:: NC_000010.11:74138109:AAAA:AAA
Gene:: AP3M1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.74138113del, NC_000010.10:g.75897871del, NM_012095.6:c.270del, NM_012095.5:c.270del, NM_012095.4:c.270del, NM_207012.4:c.270del, NM_207012.3:c.270del, NM_207012.2:c.270del, NM_001320264.2:c.270del, NM_001320264.1:c.270del, NM_001320263.2:c.270del, NM_001320263.1:c.270del, XM_024447939.2:c.270del, XM_024447939.1:c.270del, NR_135191.2:n.347del, NR_135191.1:n.604del, NM_001320265.2:c.270del, NM_001320265.1:c.270del, XM_047425054.1:c.270del, NP_036227.1:p.Gln91fs, NP_996895.1:p.Gln91fs, NP_001307193.1:p.Gln91fs, NP_001307192.1:p.Gln91fs, XP_024303707.1:p.Gln91fs, NP_001307194.1:p.Gln91fs, XP_047281010.1:p.Gln91fs

Select item 14671479088.

rs1467147908 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:74138349 (GRCh38)
10:75898107 (GRCh37)
Canonical SPDI:: NC_000010.11:74138348:A:C
Gene:: AP3M1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.74138349A>C, NC_000010.10:g.75898107A>C, NM_012095.6:c.31T>G, NM_012095.5:c.31T>G, NM_012095.4:c.31T>G, NM_207012.4:c.31T>G, NM_207012.3:c.31T>G, NM_207012.2:c.31T>G, NM_001320264.2:c.31T>G, NM_001320264.1:c.31T>G, NM_001320263.2:c.31T>G, NM_001320263.1:c.31T>G, XM_024447939.2:c.31T>G, XM_024447939.1:c.31T>G, NR_135191.2:n.108T>G, NR_135191.1:n.365T>G, NM_001320265.2:c.31T>G, NM_001320265.1:c.31T>G, XM_047425054.1:c.31T>G, NP_036227.1:p.Ser11Ala, NP_996895.1:p.Ser11Ala, NP_001307193.1:p.Ser11Ala, NP_001307192.1:p.Ser11Ala, XP_024303707.1:p.Ser11Ala, NP_001307194.1:p.Ser11Ala, XP_047281010.1:p.Ser11Ala

Select item 14632503069.

rs1463250306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:74124464 (GRCh38)
10:75884222 (GRCh37)
Canonical SPDI:: NC_000010.11:74124463:C:T
Gene:: AP3M1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000010.11:g.74124464C>T, NC_000010.10:g.75884222C>T, NM_012095.6:c.1072G>A, NM_012095.5:c.1072G>A, NM_012095.4:c.1072G>A, NM_207012.4:c.1072G>A, NM_207012.3:c.1072G>A, NM_207012.2:c.1072G>A, NM_001320264.2:c.1072G>A, NM_001320264.1:c.1072G>A, NM_001320263.2:c.1072G>A, NM_001320263.1:c.1072G>A, XM_024447939.2:c.1072G>A, XM_024447939.1:c.1072G>A, NR_135191.2:n.1171G>A, NR_135191.1:n.1428G>A, NM_001320265.2:c.910G>A, NM_001320265.1:c.910G>A, XM_047425054.1:c.*8G>A, NP_036227.1:p.Val358Ile, NP_996895.1:p.Val358Ile, NP_001307193.1:p.Val358Ile, NP_001307192.1:p.Val358Ile, XP_024303707.1:p.Val358Ile, NP_001307194.1:p.Val304Ile

Select item 145608601210.

rs1456086012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:74129987 (GRCh38)
10:75889745 (GRCh37)
Canonical SPDI:: NC_000010.11:74129986:T:C
Gene:: AP3M1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000009/1 (GnomAD)
HGVS:: NC_000010.11:g.74129987T>C, NC_000010.10:g.75889745T>C, NM_012095.6:c.589A>G, NM_012095.5:c.589A>G, NM_012095.4:c.589A>G, NM_207012.4:c.589A>G, NM_207012.3:c.589A>G, NM_207012.2:c.589A>G, NM_001320264.2:c.589A>G, NM_001320264.1:c.589A>G, NM_001320263.2:c.589A>G, NM_001320263.1:c.589A>G, XM_024447939.2:c.589A>G, XM_024447939.1:c.589A>G, NR_135191.2:n.666A>G, NR_135191.1:n.923A>G, NM_001320265.2:c.427A>G, NM_001320265.1:c.427A>G, XM_047425054.1:c.589A>G, NP_036227.1:p.Thr197Ala, NP_996895.1:p.Thr197Ala, NP_001307193.1:p.Thr197Ala, NP_001307192.1:p.Thr197Ala, XP_024303707.1:p.Thr197Ala, NP_001307194.1:p.Thr143Ala, XP_047281010.1:p.Thr197Ala

Select item 144887291411.

rs1448872914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:74138254 (GRCh38)
10:75898012 (GRCh37)
Canonical SPDI:: NC_000010.11:74138253:A:C
Gene:: AP3M1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.74138254A>C, NC_000010.10:g.75898012A>C, NM_012095.6:c.126T>G, NM_012095.5:c.126T>G, NM_012095.4:c.126T>G, NM_207012.4:c.126T>G, NM_207012.3:c.126T>G, NM_207012.2:c.126T>G, NM_001320264.2:c.126T>G, NM_001320264.1:c.126T>G, NM_001320263.2:c.126T>G, NM_001320263.1:c.126T>G, XM_024447939.2:c.126T>G, XM_024447939.1:c.126T>G, NR_135191.2:n.203T>G, NR_135191.1:n.460T>G, NM_001320265.2:c.126T>G, NM_001320265.1:c.126T>G, XM_047425054.1:c.126T>G

Select item 144790422712.

rs1447904227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:74138218 (GRCh38)
10:75897976 (GRCh37)
Canonical SPDI:: NC_000010.11:74138217:G:C
Gene:: AP3M1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.74138218G>C, NC_000010.10:g.75897976G>C, NM_012095.6:c.162C>G, NM_012095.5:c.162C>G, NM_012095.4:c.162C>G, NM_207012.4:c.162C>G, NM_207012.3:c.162C>G, NM_207012.2:c.162C>G, NM_001320264.2:c.162C>G, NM_001320264.1:c.162C>G, NM_001320263.2:c.162C>G, NM_001320263.1:c.162C>G, XM_024447939.2:c.162C>G, XM_024447939.1:c.162C>G, NR_135191.2:n.239C>G, NR_135191.1:n.496C>G, NM_001320265.2:c.162C>G, NM_001320265.1:c.162C>G, XM_047425054.1:c.162C>G, NP_036227.1:p.His54Gln, NP_996895.1:p.His54Gln, NP_001307193.1:p.His54Gln, NP_001307192.1:p.His54Gln, XP_024303707.1:p.His54Gln, NP_001307194.1:p.His54Gln, XP_047281010.1:p.His54Gln

Select item 144635565213.

rs1446355652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:74136711 (GRCh38)
10:75896469 (GRCh37)
Canonical SPDI:: NC_000010.11:74136710:T:C
Gene:: AP3M1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.74136711T>C, NC_000010.10:g.75896469T>C, NM_012095.6:c.366A>G, NM_012095.5:c.366A>G, NM_012095.4:c.366A>G, NM_207012.4:c.366A>G, NM_207012.3:c.366A>G, NM_207012.2:c.366A>G, NM_001320264.2:c.366A>G, NM_001320264.1:c.366A>G, NM_001320263.2:c.366A>G, NM_001320263.1:c.366A>G, XM_024447939.2:c.366A>G, XM_024447939.1:c.366A>G, NR_135191.2:n.443A>G, NR_135191.1:n.700A>G, XM_047425054.1:c.366A>G

Select item 144622789914.

rs1446227899 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:74123850 (GRCh38)
10:75883608 (GRCh37)
Canonical SPDI:: NC_000010.11:74123849:T:C
Gene:: AP3M1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.74123850T>C, NC_000010.10:g.75883608T>C, NM_012095.6:c.1217A>G, NM_012095.5:c.1217A>G, NM_012095.4:c.1217A>G, NM_207012.4:c.1217A>G, NM_207012.3:c.1217A>G, NM_207012.2:c.1217A>G, NM_001320264.2:c.1217A>G, NM_001320264.1:c.1217A>G, NM_001320263.2:c.1217A>G, NM_001320263.1:c.1217A>G, XM_024447939.2:c.1217A>G, XM_024447939.1:c.1217A>G, NR_135191.2:n.1316A>G, NR_135191.1:n.1573A>G, NM_001320265.2:c.1055A>G, NM_001320265.1:c.1055A>G, NP_036227.1:p.Lys406Arg, NP_996895.1:p.Lys406Arg, NP_001307193.1:p.Lys406Arg, NP_001307192.1:p.Lys406Arg, XP_024303707.1:p.Lys406Arg, NP_001307194.1:p.Lys352Arg

Select item 144405571915.

rs1444055719 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:74136762 (GRCh38)
10:75896520 (GRCh37)
Canonical SPDI:: NC_000010.11:74136761:A:G
Gene:: AP3M1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.74136762A>G, NC_000010.10:g.75896520A>G, NM_012095.6:c.315T>C, NM_012095.5:c.315T>C, NM_012095.4:c.315T>C, NM_207012.4:c.315T>C, NM_207012.3:c.315T>C, NM_207012.2:c.315T>C, NM_001320264.2:c.315T>C, NM_001320264.1:c.315T>C, NM_001320263.2:c.315T>C, NM_001320263.1:c.315T>C, XM_024447939.2:c.315T>C, XM_024447939.1:c.315T>C, NR_135191.2:n.392T>C, NR_135191.1:n.649T>C, XM_047425054.1:c.315T>C

Select item 144319591116.

rs1443195911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:74126301 (GRCh38)
10:75886059 (GRCh37)
Canonical SPDI:: NC_000010.11:74126300:A:C
Gene:: AP3M1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.74126301A>C, NC_000010.10:g.75886059A>C, NM_012095.6:c.858T>G, NM_012095.5:c.858T>G, NM_012095.4:c.858T>G, NM_207012.4:c.858T>G, NM_207012.3:c.858T>G, NM_207012.2:c.858T>G, NM_001320264.2:c.858T>G, NM_001320264.1:c.858T>G, NM_001320263.2:c.858T>G, NM_001320263.1:c.858T>G, XM_024447939.2:c.858T>G, XM_024447939.1:c.858T>G, NR_135191.2:n.935T>G, NR_135191.1:n.1192T>G, NM_001320265.2:c.696T>G, NM_001320265.1:c.696T>G, XM_047425054.1:c.858T>G, NP_036227.1:p.Ser286Arg, NP_996895.1:p.Ser286Arg, NP_001307193.1:p.Ser286Arg, NP_001307192.1:p.Ser286Arg, XP_024303707.1:p.Ser286Arg, NP_001307194.1:p.Ser232Arg, XP_047281010.1:p.Ser286Arg

Select item 144077512517.

rs1440775125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:74138358 (GRCh38)
10:75898116 (GRCh37)
Canonical SPDI:: NC_000010.11:74138357:T:C
Gene:: AP3M1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.74138358T>C, NC_000010.10:g.75898116T>C, NM_012095.6:c.22A>G, NM_012095.5:c.22A>G, NM_012095.4:c.22A>G, NM_207012.4:c.22A>G, NM_207012.3:c.22A>G, NM_207012.2:c.22A>G, NM_001320264.2:c.22A>G, NM_001320264.1:c.22A>G, NM_001320263.2:c.22A>G, NM_001320263.1:c.22A>G, XM_024447939.2:c.22A>G, XM_024447939.1:c.22A>G, NR_135191.2:n.99A>G, NR_135191.1:n.356A>G, NM_001320265.2:c.22A>G, NM_001320265.1:c.22A>G, XM_047425054.1:c.22A>G, NP_036227.1:p.Ile8Val, NP_996895.1:p.Ile8Val, NP_001307193.1:p.Ile8Val, NP_001307192.1:p.Ile8Val, XP_024303707.1:p.Ile8Val, NP_001307194.1:p.Ile8Val, XP_047281010.1:p.Ile8Val

Select item 143880926718.

rs1438809267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:74129233 (GRCh38)
10:75888991 (GRCh37)
Canonical SPDI:: NC_000010.11:74129232:C:G,NC_000010.11:74129232:C:T
Gene:: AP3M1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.74129233C>G, NC_000010.11:g.74129233C>T, NC_000010.10:g.75888991C>G, NC_000010.10:g.75888991C>T, NM_012095.6:c.678G>C, NM_012095.6:c.678G>A, NM_012095.5:c.678G>C, NM_012095.5:c.678G>A, NM_012095.4:c.678G>C, NM_012095.4:c.678G>A, NM_207012.4:c.678G>C, NM_207012.4:c.678G>A, NM_207012.3:c.678G>C, NM_207012.3:c.678G>A, NM_207012.2:c.678G>C, NM_207012.2:c.678G>A, NM_001320264.2:c.678G>C, NM_001320264.2:c.678G>A, NM_001320264.1:c.678G>C, NM_001320264.1:c.678G>A, NM_001320263.2:c.678G>C, NM_001320263.2:c.678G>A, NM_001320263.1:c.678G>C, NM_001320263.1:c.678G>A, XM_024447939.2:c.678G>C, XM_024447939.2:c.678G>A, XM_024447939.1:c.678G>C, XM_024447939.1:c.678G>A, NR_135191.2:n.755G>C, NR_135191.2:n.755G>A, NR_135191.1:n.1012G>C, NR_135191.1:n.1012G>A, NM_001320265.2:c.516G>C, NM_001320265.2:c.516G>A, NM_001320265.1:c.516G>C, NM_001320265.1:c.516G>A, XM_047425054.1:c.678G>C, XM_047425054.1:c.678G>A, NP_036227.1:p.Arg226Ser, NP_996895.1:p.Arg226Ser, NP_001307193.1:p.Arg226Ser, NP_001307192.1:p.Arg226Ser, XP_024303707.1:p.Arg226Ser, NP_001307194.1:p.Arg172Ser, XP_047281010.1:p.Arg226Ser

Select item 143780378519.

rs1437803785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:74126289 (GRCh38)
10:75886047 (GRCh37)
Canonical SPDI:: NC_000010.11:74126288:T:C
Gene:: AP3M1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000010.11:g.74126289T>C, NC_000010.10:g.75886047T>C, NM_012095.6:c.870A>G, NM_012095.5:c.870A>G, NM_012095.4:c.870A>G, NM_207012.4:c.870A>G, NM_207012.3:c.870A>G, NM_207012.2:c.870A>G, NM_001320264.2:c.870A>G, NM_001320264.1:c.870A>G, NM_001320263.2:c.870A>G, NM_001320263.1:c.870A>G, XM_024447939.2:c.870A>G, XM_024447939.1:c.870A>G, NR_135191.2:n.947A>G, NR_135191.1:n.1204A>G, NM_001320265.2:c.708A>G, NM_001320265.1:c.708A>G, XM_047425054.1:c.870A>G

Select item 143513408920.

rs1435134089 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:74129960 (GRCh38)
10:75889718 (GRCh37)
Canonical SPDI:: NC_000010.11:74129959:T:C
Gene:: AP3M1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.74129960T>C, NC_000010.10:g.75889718T>C, NM_012095.6:c.616A>G, NM_012095.5:c.616A>G, NM_012095.4:c.616A>G, NM_207012.4:c.616A>G, NM_207012.3:c.616A>G, NM_207012.2:c.616A>G, NM_001320264.2:c.616A>G, NM_001320264.1:c.616A>G, NM_001320263.2:c.616A>G, NM_001320263.1:c.616A>G, XM_024447939.2:c.616A>G, XM_024447939.1:c.616A>G, NR_135191.2:n.693A>G, NR_135191.1:n.950A>G, NM_001320265.2:c.454A>G, NM_001320265.1:c.454A>G, XM_047425054.1:c.616A>G, NP_036227.1:p.Ile206Val, NP_996895.1:p.Ile206Val, NP_001307193.1:p.Ile206Val, NP_001307192.1:p.Ile206Val, XP_024303707.1:p.Ile206Val, NP_001307194.1:p.Ile152Val, XP_047281010.1:p.Ile206Val

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Result Filters

Validation Status

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Annotation

Global MAF

Custom range

Additional filters

Display Settings:

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Items: 1 to 20 of 361

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