SNP Links for Protein (Select 194239666) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 413

<< First< Prev

Page of 21

Next >Last >>

Select item 14904313151.

rs1490431315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:88630127 (GRCh38)
15:89173358 (GRCh37)
Canonical SPDI:: NC_000015.10:88630126:G:A
Gene:: AEN (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.88630127G>A, NC_000015.9:g.89173358G>A, XM_006720645.4:c.*70G>A, XM_006720645.3:c.*70G>A, NM_022767.4:c.811G>A, NM_022767.3:c.811G>A, XM_017022489.2:c.811G>A, XM_017022489.1:c.811G>A, XM_005254966.2:c.811G>A, XM_005254966.1:c.811G>A, XM_047432947.1:c.811G>A, XM_047432946.1:c.811G>A, XM_047432945.1:c.*70G>A, NP_073604.3:p.Val271Met, XP_016877978.1:p.Val271Met, XP_005255023.1:p.Val271Met, XP_047288903.1:p.Val271Met, XP_047288902.1:p.Val271Met

Select item 14797274062.

rs1479727406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:88626523 (GRCh38)
15:89169754 (GRCh37)
Canonical SPDI:: NC_000015.10:88626522:C:T
Gene:: AEN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.88626523C>T, NC_000015.9:g.89169754C>T, XM_006720645.4:c.314C>T, XM_006720645.3:c.314C>T, XM_006720645.2:c.314C>T, XM_006720645.1:c.674C>T, NM_022767.4:c.314C>T, NM_022767.3:c.314C>T, XM_017022489.2:c.314C>T, XM_017022489.1:c.314C>T, XM_005254966.2:c.314C>T, XM_005254966.1:c.314C>T, XM_047432947.1:c.314C>T, XM_047432946.1:c.314C>T, XM_047432945.1:c.314C>T, XP_006720708.2:p.Pro105Leu, NP_073604.3:p.Pro105Leu, XP_016877978.1:p.Pro105Leu, XP_005255023.1:p.Pro105Leu, XP_047288903.1:p.Pro105Leu, XP_047288902.1:p.Pro105Leu, XP_047288901.1:p.Pro105Leu

Select item 14783571803.

rs1478357180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:88626574 (GRCh38)
15:89169805 (GRCh37)
Canonical SPDI:: NC_000015.10:88626573:C:T
Gene:: AEN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.88626574C>T, NC_000015.9:g.89169805C>T, XM_006720645.4:c.365C>T, XM_006720645.3:c.365C>T, XM_006720645.2:c.365C>T, XM_006720645.1:c.725C>T, NM_022767.4:c.365C>T, NM_022767.3:c.365C>T, XM_017022489.2:c.365C>T, XM_017022489.1:c.365C>T, XM_005254966.2:c.365C>T, XM_005254966.1:c.365C>T, XM_047432947.1:c.365C>T, XM_047432946.1:c.365C>T, XM_047432945.1:c.365C>T, XP_006720708.2:p.Pro122Leu, NP_073604.3:p.Pro122Leu, XP_016877978.1:p.Pro122Leu, XP_005255023.1:p.Pro122Leu, XP_047288903.1:p.Pro122Leu, XP_047288902.1:p.Pro122Leu, XP_047288901.1:p.Pro122Leu

Select item 14764363244.

rs1476436324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:88626511 (GRCh38)
15:89169742 (GRCh37)
Canonical SPDI:: NC_000015.10:88626510:A:C
Gene:: AEN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.88626511A>C, NC_000015.9:g.89169742A>C, XM_006720645.4:c.302A>C, XM_006720645.3:c.302A>C, XM_006720645.2:c.302A>C, XM_006720645.1:c.662A>C, NM_022767.4:c.302A>C, NM_022767.3:c.302A>C, XM_017022489.2:c.302A>C, XM_017022489.1:c.302A>C, XM_005254966.2:c.302A>C, XM_005254966.1:c.302A>C, XM_047432947.1:c.302A>C, XM_047432946.1:c.302A>C, XM_047432945.1:c.302A>C, XP_006720708.2:p.Lys101Thr, NP_073604.3:p.Lys101Thr, XP_016877978.1:p.Lys101Thr, XP_005255023.1:p.Lys101Thr, XP_047288903.1:p.Lys101Thr, XP_047288902.1:p.Lys101Thr, XP_047288901.1:p.Lys101Thr

Select item 14764070845.

rs1476407084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:88629372 (GRCh38)
15:89172603 (GRCh37)
Canonical SPDI:: NC_000015.10:88629371:G:A
Gene:: AEN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.88629372G>A, NC_000015.9:g.89172603G>A, XM_006720645.4:c.687G>A, XM_006720645.3:c.687G>A, XM_006720645.2:c.687G>A, XM_006720645.1:c.1047G>A, NM_022767.4:c.687G>A, NM_022767.3:c.687G>A, XM_017022489.2:c.687G>A, XM_017022489.1:c.687G>A, XM_005254966.2:c.687G>A, XM_005254966.1:c.687G>A, XM_047432947.1:c.687G>A, XM_047432946.1:c.687G>A, XM_047432945.1:c.687G>A

Select item 14723372256.

rs1472337225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:88630196 (GRCh38)
15:89173427 (GRCh37)
Canonical SPDI:: NC_000015.10:88630195:A:G
Gene:: AEN (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.88630196A>G, NC_000015.9:g.89173427A>G, XM_006720645.4:c.*139A>G, XM_006720645.3:c.*139A>G, NM_022767.4:c.880A>G, NM_022767.3:c.880A>G, XM_017022489.2:c.880A>G, XM_017022489.1:c.880A>G, XM_005254966.2:c.880A>G, XM_005254966.1:c.880A>G, XM_047432947.1:c.880A>G, XM_047432946.1:c.880A>G, XM_047432945.1:c.*139A>G, NP_073604.3:p.Thr294Ala, XP_016877978.1:p.Thr294Ala, XP_005255023.1:p.Thr294Ala, XP_047288903.1:p.Thr294Ala, XP_047288902.1:p.Thr294Ala

Select item 14701876237.

rs1470187623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:88629286 (GRCh38)
15:89172517 (GRCh37)
Canonical SPDI:: NC_000015.10:88629285:G:A
Gene:: AEN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.88629286G>A, NC_000015.9:g.89172517G>A, XM_006720645.4:c.601G>A, XM_006720645.3:c.601G>A, XM_006720645.2:c.601G>A, XM_006720645.1:c.961G>A, NM_022767.4:c.601G>A, NM_022767.3:c.601G>A, XM_017022489.2:c.601G>A, XM_017022489.1:c.601G>A, XM_005254966.2:c.601G>A, XM_005254966.1:c.601G>A, XM_047432947.1:c.601G>A, XM_047432946.1:c.601G>A, XM_047432945.1:c.601G>A, XP_006720708.2:p.Ala201Thr, NP_073604.3:p.Ala201Thr, XP_016877978.1:p.Ala201Thr, XP_005255023.1:p.Ala201Thr, XP_047288903.1:p.Ala201Thr, XP_047288902.1:p.Ala201Thr, XP_047288901.1:p.Ala201Thr

Select item 14664548348.

rs1466454834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:88626493 (GRCh38)
15:89169724 (GRCh37)
Canonical SPDI:: NC_000015.10:88626492:G:A
Gene:: AEN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.88626493G>A, NC_000015.9:g.89169724G>A, XM_006720645.4:c.284G>A, XM_006720645.3:c.284G>A, XM_006720645.2:c.284G>A, XM_006720645.1:c.644G>A, NM_022767.4:c.284G>A, NM_022767.3:c.284G>A, XM_017022489.2:c.284G>A, XM_017022489.1:c.284G>A, XM_005254966.2:c.284G>A, XM_005254966.1:c.284G>A, XM_047432947.1:c.284G>A, XM_047432946.1:c.284G>A, XM_047432945.1:c.284G>A, XP_006720708.2:p.Arg95Lys, NP_073604.3:p.Arg95Lys, XP_016877978.1:p.Arg95Lys, XP_005255023.1:p.Arg95Lys, XP_047288903.1:p.Arg95Lys, XP_047288902.1:p.Arg95Lys, XP_047288901.1:p.Arg95Lys

Select item 14617170189.

rs1461717018 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:88630083 (GRCh38)
15:89173314 (GRCh37)
Canonical SPDI:: NC_000015.10:88630082:T:G
Gene:: AEN (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
G=0.000546/1 (Korea1K)
HGVS:: NC_000015.10:g.88630083T>G, NC_000015.9:g.89173314T>G, XM_006720645.4:c.*26T>G, XM_006720645.3:c.*26T>G, XM_006720645.2:c.*26T>G, XM_006720645.1:c.*26T>G, NM_022767.4:c.767T>G, NM_022767.3:c.767T>G, XM_017022489.2:c.767T>G, XM_017022489.1:c.767T>G, XM_005254966.2:c.767T>G, XM_005254966.1:c.767T>G, XM_047432947.1:c.767T>G, XM_047432946.1:c.767T>G, XM_047432945.1:c.*26T>G, NP_073604.3:p.Val256Gly, XP_016877978.1:p.Val256Gly, XP_005255023.1:p.Val256Gly, XP_047288903.1:p.Val256Gly, XP_047288902.1:p.Val256Gly

Select item 145802255610.

rs1458022556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:88626473 (GRCh38)
15:89169704 (GRCh37)
Canonical SPDI:: NC_000015.10:88626472:T:C
Gene:: AEN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000015.10:g.88626473T>C, NC_000015.9:g.89169704T>C, XM_006720645.4:c.264T>C, XM_006720645.3:c.264T>C, XM_006720645.2:c.264T>C, XM_006720645.1:c.624T>C, NM_022767.4:c.264T>C, NM_022767.3:c.264T>C, XM_017022489.2:c.264T>C, XM_017022489.1:c.264T>C, XM_005254966.2:c.264T>C, XM_005254966.1:c.264T>C, XM_047432947.1:c.264T>C, XM_047432946.1:c.264T>C, XM_047432945.1:c.264T>C

Select item 145312895511.

rs1453128955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:88626407 (GRCh38)
15:89169638 (GRCh37)
Canonical SPDI:: NC_000015.10:88626406:C:G
Gene:: AEN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.88626407C>G, NC_000015.9:g.89169638C>G, XM_006720645.4:c.198C>G, XM_006720645.3:c.198C>G, XM_006720645.2:c.198C>G, XM_006720645.1:c.558C>G, NM_022767.4:c.198C>G, NM_022767.3:c.198C>G, XM_017022489.2:c.198C>G, XM_017022489.1:c.198C>G, XM_005254966.2:c.198C>G, XM_005254966.1:c.198C>G, XM_047432947.1:c.198C>G, XM_047432946.1:c.198C>G, XM_047432945.1:c.198C>G

Select item 145130736512.

rs1451307365 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 15:88630172 (GRCh38)
15:89173403 (GRCh37)
Canonical SPDI:: NC_000015.10:88630171:G:
Gene:: AEN (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.88630172del, NC_000015.9:g.89173403del, XM_006720645.4:c.*115del, XM_006720645.3:c.*115del, NM_022767.4:c.856del, NM_022767.3:c.856del, XM_017022489.2:c.856del, XM_017022489.1:c.856del, XM_005254966.2:c.856del, XM_005254966.1:c.856del, XM_047432947.1:c.856del, XM_047432946.1:c.856del, XM_047432945.1:c.*115del, NP_073604.3:p.Glu286fs, XP_016877978.1:p.Glu286fs, XP_005255023.1:p.Glu286fs, XP_047288903.1:p.Glu286fs, XP_047288902.1:p.Glu286fs

Select item 144962086513.

rs1449620865 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:88626232 (GRCh38)
15:89169463 (GRCh37)
Canonical SPDI:: NC_000015.10:88626231:A:G
Gene:: AEN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.88626232A>G, NC_000015.9:g.89169463A>G, XM_006720645.4:c.23A>G, XM_006720645.3:c.23A>G, XM_006720645.2:c.23A>G, XM_006720645.1:c.383A>G, NM_022767.4:c.23A>G, NM_022767.3:c.23A>G, XM_017022489.2:c.23A>G, XM_017022489.1:c.23A>G, XM_005254966.2:c.23A>G, XM_005254966.1:c.23A>G, XM_047432947.1:c.23A>G, XM_047432946.1:c.23A>G, XM_047432945.1:c.23A>G, XP_006720708.2:p.Glu8Gly, NP_073604.3:p.Glu8Gly, XP_016877978.1:p.Glu8Gly, XP_005255023.1:p.Glu8Gly, XP_047288903.1:p.Glu8Gly, XP_047288902.1:p.Glu8Gly, XP_047288901.1:p.Glu8Gly

Select item 144767272414.

rs1447672724 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGA>- [Show Flanks]
Chromosome:: 15:88630219 (GRCh38)
15:89173450 (GRCh37)
Canonical SPDI:: NC_000015.10:88630215:GGAGGA:GGA
Gene:: AEN (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.88630216GGA[1], NC_000015.9:g.89173447GGA[1], XM_006720645.4:c.*159GGA[1], XM_006720645.3:c.*159GGA[1], NM_022767.4:c.900GGA[1], NM_022767.3:c.900GGA[1], XM_017022489.2:c.900GGA[1], XM_017022489.1:c.900GGA[1], XM_005254966.2:c.900GGA[1], XM_005254966.1:c.900GGA[1], XM_047432947.1:c.900GGA[1], XM_047432946.1:c.900GGA[1], XM_047432945.1:c.*159GGA[1], NP_073604.3:p.Glu301del, XP_016877978.1:p.Glu301del, XP_005255023.1:p.Glu301del, XP_047288903.1:p.Glu301del, XP_047288902.1:p.Glu301del

Select item 144722149215.

rs1447221492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:88626409 (GRCh38)
15:89169640 (GRCh37)
Canonical SPDI:: NC_000015.10:88626408:C:A,NC_000015.10:88626408:C:G
Gene:: AEN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.88626409C>A, NC_000015.10:g.88626409C>G, NC_000015.9:g.89169640C>A, NC_000015.9:g.89169640C>G, XM_006720645.4:c.200C>A, XM_006720645.4:c.200C>G, XM_006720645.3:c.200C>A, XM_006720645.3:c.200C>G, XM_006720645.2:c.200C>A, XM_006720645.2:c.200C>G, XM_006720645.1:c.560C>A, XM_006720645.1:c.560C>G, NM_022767.4:c.200C>A, NM_022767.4:c.200C>G, NM_022767.3:c.200C>A, NM_022767.3:c.200C>G, XM_017022489.2:c.200C>A, XM_017022489.2:c.200C>G, XM_017022489.1:c.200C>A, XM_017022489.1:c.200C>G, XM_005254966.2:c.200C>A, XM_005254966.2:c.200C>G, XM_005254966.1:c.200C>A, XM_005254966.1:c.200C>G, XM_047432947.1:c.200C>A, XM_047432947.1:c.200C>G, XM_047432946.1:c.200C>A, XM_047432946.1:c.200C>G, XM_047432945.1:c.200C>A, XM_047432945.1:c.200C>G, XP_006720708.2:p.Pro67His, XP_006720708.2:p.Pro67Arg, NP_073604.3:p.Pro67His, NP_073604.3:p.Pro67Arg, XP_016877978.1:p.Pro67His, XP_016877978.1:p.Pro67Arg, XP_005255023.1:p.Pro67His, XP_005255023.1:p.Pro67Arg, XP_047288903.1:p.Pro67His, XP_047288903.1:p.Pro67Arg, XP_047288902.1:p.Pro67His, XP_047288902.1:p.Pro67Arg, XP_047288901.1:p.Pro67His, XP_047288901.1:p.Pro67Arg

Select item 144307757216.

rs1443077572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:88630064 (GRCh38)
15:89173295 (GRCh37)
Canonical SPDI:: NC_000015.10:88630063:C:T
Gene:: AEN (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000015.10:g.88630064C>T, NC_000015.9:g.89173295C>T, XM_006720645.4:c.*7C>T, XM_006720645.3:c.*7C>T, XM_006720645.2:c.*7C>T, XM_006720645.1:c.*7C>T, NM_022767.4:c.748C>T, NM_022767.3:c.748C>T, XM_017022489.2:c.748C>T, XM_017022489.1:c.748C>T, XM_005254966.2:c.748C>T, XM_005254966.1:c.748C>T, XM_047432947.1:c.748C>T, XM_047432946.1:c.748C>T, XM_047432945.1:c.*7C>T, NP_073604.3:p.Gln250Ter, XP_016877978.1:p.Gln250Ter, XP_005255023.1:p.Gln250Ter, XP_047288903.1:p.Gln250Ter, XP_047288902.1:p.Gln250Ter

Select item 143786000417.

rs1437860004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:88626668 (GRCh38)
15:89169899 (GRCh37)
Canonical SPDI:: NC_000015.10:88626667:C:T
Gene:: AEN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.88626668C>T, NC_000015.9:g.89169899C>T, XM_006720645.4:c.459C>T, XM_006720645.3:c.459C>T, XM_006720645.2:c.459C>T, XM_006720645.1:c.819C>T, NM_022767.4:c.459C>T, NM_022767.3:c.459C>T, XM_017022489.2:c.459C>T, XM_017022489.1:c.459C>T, XM_005254966.2:c.459C>T, XM_005254966.1:c.459C>T, XM_047432947.1:c.459C>T, XM_047432946.1:c.459C>T, XM_047432945.1:c.459C>T

Select item 143670725818.

rs1436707258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:88629368 (GRCh38)
15:89172599 (GRCh37)
Canonical SPDI:: NC_000015.10:88629367:C:G,NC_000015.10:88629367:C:T
Gene:: AEN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.88629368C>G, NC_000015.10:g.88629368C>T, NC_000015.9:g.89172599C>G, NC_000015.9:g.89172599C>T, XM_006720645.4:c.683C>G, XM_006720645.4:c.683C>T, XM_006720645.3:c.683C>G, XM_006720645.3:c.683C>T, XM_006720645.2:c.683C>G, XM_006720645.2:c.683C>T, XM_006720645.1:c.1043C>G, XM_006720645.1:c.1043C>T, NM_022767.4:c.683C>G, NM_022767.4:c.683C>T, NM_022767.3:c.683C>G, NM_022767.3:c.683C>T, XM_017022489.2:c.683C>G, XM_017022489.2:c.683C>T, XM_017022489.1:c.683C>G, XM_017022489.1:c.683C>T, XM_005254966.2:c.683C>G, XM_005254966.2:c.683C>T, XM_005254966.1:c.683C>G, XM_005254966.1:c.683C>T, XM_047432947.1:c.683C>G, XM_047432947.1:c.683C>T, XM_047432946.1:c.683C>G, XM_047432946.1:c.683C>T, XM_047432945.1:c.683C>G, XM_047432945.1:c.683C>T, XP_006720708.2:p.Thr228Ser, XP_006720708.2:p.Thr228Ile, NP_073604.3:p.Thr228Ser, NP_073604.3:p.Thr228Ile, XP_016877978.1:p.Thr228Ser, XP_016877978.1:p.Thr228Ile, XP_005255023.1:p.Thr228Ser, XP_005255023.1:p.Thr228Ile, XP_047288903.1:p.Thr228Ser, XP_047288903.1:p.Thr228Ile, XP_047288902.1:p.Thr228Ser, XP_047288902.1:p.Thr228Ile, XP_047288901.1:p.Thr228Ser, XP_047288901.1:p.Thr228Ile

Select item 143631434519.

rs1436314345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:88626551 (GRCh38)
15:89169782 (GRCh37)
Canonical SPDI:: NC_000015.10:88626550:C:A,NC_000015.10:88626550:C:T
Gene:: AEN (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/1 (ExAC)
HGVS:: NC_000015.10:g.88626551C>A, NC_000015.10:g.88626551C>T, NC_000015.9:g.89169782C>A, NC_000015.9:g.89169782C>T, XM_006720645.4:c.342C>A, XM_006720645.4:c.342C>T, XM_006720645.3:c.342C>A, XM_006720645.3:c.342C>T, XM_006720645.2:c.342C>A, XM_006720645.2:c.342C>T, XM_006720645.1:c.702C>A, XM_006720645.1:c.702C>T, NM_022767.4:c.342C>A, NM_022767.4:c.342C>T, NM_022767.3:c.342C>A, NM_022767.3:c.342C>T, XM_017022489.2:c.342C>A, XM_017022489.2:c.342C>T, XM_017022489.1:c.342C>A, XM_017022489.1:c.342C>T, XM_005254966.2:c.342C>A, XM_005254966.2:c.342C>T, XM_005254966.1:c.342C>A, XM_005254966.1:c.342C>T, XM_047432947.1:c.342C>A, XM_047432947.1:c.342C>T, XM_047432946.1:c.342C>A, XM_047432946.1:c.342C>T, XM_047432945.1:c.342C>A, XM_047432945.1:c.342C>T, XP_006720708.2:p.Asp114Glu, NP_073604.3:p.Asp114Glu, XP_016877978.1:p.Asp114Glu, XP_005255023.1:p.Asp114Glu, XP_047288903.1:p.Asp114Glu, XP_047288902.1:p.Asp114Glu, XP_047288901.1:p.Asp114Glu

Select item 143595745020.

rs1435957450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:88630209 (GRCh38)
15:89173440 (GRCh37)
Canonical SPDI:: NC_000015.10:88630208:A:G
Gene:: AEN (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.88630209A>G, NC_000015.9:g.89173440A>G, XM_006720645.4:c.*152A>G, XM_006720645.3:c.*152A>G, NM_022767.4:c.893A>G, NM_022767.3:c.893A>G, XM_017022489.2:c.893A>G, XM_017022489.1:c.893A>G, XM_005254966.2:c.893A>G, XM_005254966.1:c.893A>G, XM_047432947.1:c.893A>G, XM_047432946.1:c.893A>G, XM_047432945.1:c.*152A>G, NP_073604.3:p.Gln298Arg, XP_016877978.1:p.Gln298Arg, XP_005255023.1:p.Gln298Arg, XP_047288903.1:p.Gln298Arg, XP_047288902.1:p.Gln298Arg

<< First< Prev

Page of 21

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 194239666) (413)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: