SNP Links for Protein (Select 18201880) - SNP

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Links from Protein

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Select item 14857616671.

rs1485761667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2042969 (GRCh38)
17:1946263 (GRCh37)
Canonical SPDI:: NC_000017.11:2042968:C:T
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2042969C>T, NC_000017.10:g.1946263C>T, NG_051946.1:g.17858C>T, NM_001383.6:c.*383C>T, NM_001383.5:c.*383C>T, NM_001383.4:c.*383C>T, NM_001383.3:c.*383C>T, NR_144476.2:n.2099C>T, NR_144476.1:n.2140C>T, NR_144474.2:n.2073C>T, NR_144474.1:n.2114C>T, NR_144475.2:n.2040C>T, NR_144475.1:n.2081C>T, NM_001346576.2:c.*383C>T, NM_001346576.1:c.*383C>T, NM_001346574.1:c.*383C>T, NM_001346575.1:c.*383C>T, NM_080822.3:c.549C>T, NM_080822.2:c.549C>T

Select item 14855112662.

rs1485511266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:2042786 (GRCh38)
17:1946080 (GRCh37)
Canonical SPDI:: NC_000017.11:2042785:T:C
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.2042786T>C, NC_000017.10:g.1946080T>C, NG_051946.1:g.17675T>C, NM_001383.6:c.*200T>C, NM_001383.5:c.*200T>C, NM_001383.4:c.*200T>C, NM_001383.3:c.*200T>C, NR_144476.2:n.1916T>C, NR_144476.1:n.1957T>C, NR_144474.2:n.1890T>C, NR_144474.1:n.1931T>C, NR_144475.2:n.1857T>C, NR_144475.1:n.1898T>C, NM_001346576.2:c.*200T>C, NM_001346576.1:c.*200T>C, NM_001346574.1:c.*200T>C, NM_001346575.1:c.*200T>C, NM_080822.3:c.366T>C, NM_080822.2:c.366T>C

Select item 14833084443.

rs1483308444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2042147 (GRCh38)
17:1945441 (GRCh37)
Canonical SPDI:: NC_000017.11:2042146:C:T
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2042147C>T, NC_000017.10:g.1945441C>T, NG_051946.1:g.17036C>T, NM_080822.3:c.100C>T, NM_080822.2:c.100C>T, NP_543012.1:p.Arg34Trp

Select item 14826338764.

rs1482633876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2042108 (GRCh38)
17:1945402 (GRCh37)
Canonical SPDI:: NC_000017.11:2042107:G:A
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2042108G>A, NC_000017.10:g.1945402G>A, NG_051946.1:g.16997G>A, NM_080822.3:c.61G>A, NM_080822.2:c.61G>A, NP_543012.1:p.Gly21Ser

Select item 14821614545.

rs1482161454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:2042736 (GRCh38)
17:1946030 (GRCh37)
Canonical SPDI:: NC_000017.11:2042735:C:A,NC_000017.11:2042735:C:T
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2042736C>A, NC_000017.11:g.2042736C>T, NC_000017.10:g.1946030C>A, NC_000017.10:g.1946030C>T, NG_051946.1:g.17625C>A, NG_051946.1:g.17625C>T, NM_001383.6:c.*150C>A, NM_001383.6:c.*150C>T, NM_001383.5:c.*150C>A, NM_001383.5:c.*150C>T, NM_001383.4:c.*150C>A, NM_001383.4:c.*150C>T, NM_001383.3:c.*150C>A, NM_001383.3:c.*150C>T, NR_144476.2:n.1866C>A, NR_144476.2:n.1866C>T, NR_144476.1:n.1907C>A, NR_144476.1:n.1907C>T, NR_144474.2:n.1840C>A, NR_144474.2:n.1840C>T, NR_144474.1:n.1881C>A, NR_144474.1:n.1881C>T, NR_144475.2:n.1807C>A, NR_144475.2:n.1807C>T, NR_144475.1:n.1848C>A, NR_144475.1:n.1848C>T, NM_001346576.2:c.*150C>A, NM_001346576.2:c.*150C>T, NM_001346576.1:c.*150C>A, NM_001346576.1:c.*150C>T, NM_001346574.1:c.*150C>A, NM_001346574.1:c.*150C>T, NM_001346575.1:c.*150C>A, NM_001346575.1:c.*150C>T, NM_080822.3:c.316C>A, NM_080822.3:c.316C>T, NM_080822.2:c.316C>A, NM_080822.2:c.316C>T, NP_543012.1:p.Leu106Met

Select item 14757659216.

rs1475765921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2042881 (GRCh38)
17:1946175 (GRCh37)
Canonical SPDI:: NC_000017.11:2042880:G:A
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.2042881G>A, NC_000017.10:g.1946175G>A, NG_051946.1:g.17770G>A, NM_001383.6:c.*295G>A, NM_001383.5:c.*295G>A, NM_001383.4:c.*295G>A, NM_001383.3:c.*295G>A, NR_144476.2:n.2011G>A, NR_144476.1:n.2052G>A, NR_144474.2:n.1985G>A, NR_144474.1:n.2026G>A, NR_144475.2:n.1952G>A, NR_144475.1:n.1993G>A, NM_001346576.2:c.*295G>A, NM_001346576.1:c.*295G>A, NM_001346574.1:c.*295G>A, NM_001346575.1:c.*295G>A, NM_080822.3:c.461G>A, NM_080822.2:c.461G>A, NP_543012.1:p.Arg154Gln

Select item 14744334427.

rs1474433442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2042858 (GRCh38)
17:1946152 (GRCh37)
Canonical SPDI:: NC_000017.11:2042857:C:T
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.2042858C>T, NC_000017.10:g.1946152C>T, NG_051946.1:g.17747C>T, NM_001383.6:c.*272C>T, NM_001383.5:c.*272C>T, NM_001383.4:c.*272C>T, NM_001383.3:c.*272C>T, NR_144476.2:n.1988C>T, NR_144476.1:n.2029C>T, NR_144474.2:n.1962C>T, NR_144474.1:n.2003C>T, NR_144475.2:n.1929C>T, NR_144475.1:n.1970C>T, NM_001346576.2:c.*272C>T, NM_001346576.1:c.*272C>T, NM_001346574.1:c.*272C>T, NM_001346575.1:c.*272C>T, NM_080822.3:c.438C>T, NM_080822.2:c.438C>T

Select item 14697191898.

rs1469719189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:2042797 (GRCh38)
17:1946091 (GRCh37)
Canonical SPDI:: NC_000017.11:2042796:C:A,NC_000017.11:2042796:C:T
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2042797C>A, NC_000017.11:g.2042797C>T, NC_000017.10:g.1946091C>A, NC_000017.10:g.1946091C>T, NG_051946.1:g.17686C>A, NG_051946.1:g.17686C>T, NM_001383.6:c.*211C>A, NM_001383.6:c.*211C>T, NM_001383.5:c.*211C>A, NM_001383.5:c.*211C>T, NM_001383.4:c.*211C>A, NM_001383.4:c.*211C>T, NM_001383.3:c.*211C>A, NM_001383.3:c.*211C>T, NR_144476.2:n.1927C>A, NR_144476.2:n.1927C>T, NR_144476.1:n.1968C>A, NR_144476.1:n.1968C>T, NR_144474.2:n.1901C>A, NR_144474.2:n.1901C>T, NR_144474.1:n.1942C>A, NR_144474.1:n.1942C>T, NR_144475.2:n.1868C>A, NR_144475.2:n.1868C>T, NR_144475.1:n.1909C>A, NR_144475.1:n.1909C>T, NM_001346576.2:c.*211C>A, NM_001346576.2:c.*211C>T, NM_001346576.1:c.*211C>A, NM_001346576.1:c.*211C>T, NM_001346574.1:c.*211C>A, NM_001346574.1:c.*211C>T, NM_001346575.1:c.*211C>A, NM_001346575.1:c.*211C>T, NM_080822.3:c.377C>A, NM_080822.3:c.377C>T, NM_080822.2:c.377C>A, NM_080822.2:c.377C>T, NP_543012.1:p.Ala126Asp, NP_543012.1:p.Ala126Val

Select item 14682751159.

rs1468275115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:2042996 (GRCh38)
17:1946290 (GRCh37)
Canonical SPDI:: NC_000017.11:2042995:C:G
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2042996C>G, NC_000017.10:g.1946290C>G, NG_051946.1:g.17885C>G, NM_001383.6:c.*410C>G, NM_001383.5:c.*410C>G, NM_001383.4:c.*410C>G, NM_001383.3:c.*410C>G, NR_144476.2:n.2126C>G, NR_144476.1:n.2167C>G, NR_144474.2:n.2100C>G, NR_144474.1:n.2141C>G, NR_144475.2:n.2067C>G, NR_144475.1:n.2108C>G, NM_001346576.2:c.*410C>G, NM_001346576.1:c.*410C>G, NM_001346574.1:c.*410C>G, NM_001346575.1:c.*410C>G, NM_080822.3:c.576C>G, NM_080822.2:c.576C>G, NP_543012.1:p.Ser192Arg

Select item 146465362510.

rs1464653625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:2042940 (GRCh38)
17:1946234 (GRCh37)
Canonical SPDI:: NC_000017.11:2042939:G:T
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2042940G>T, NC_000017.10:g.1946234G>T, NG_051946.1:g.17829G>T, NM_001383.6:c.*354G>T, NM_001383.5:c.*354G>T, NM_001383.4:c.*354G>T, NM_001383.3:c.*354G>T, NR_144476.2:n.2070G>T, NR_144476.1:n.2111G>T, NR_144474.2:n.2044G>T, NR_144474.1:n.2085G>T, NR_144475.2:n.2011G>T, NR_144475.1:n.2052G>T, NM_001346576.2:c.*354G>T, NM_001346576.1:c.*354G>T, NM_001346574.1:c.*354G>T, NM_001346575.1:c.*354G>T, NM_080822.3:c.520G>T, NM_080822.2:c.520G>T, NP_543012.1:p.Val174Phe

Select item 146422408011.

rs1464224080 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCA [Show Flanks]
Chromosome:: 17:2043046 (GRCh38)
17:1946341 (GRCh37)
Canonical SPDI:: NC_000017.11:2043046:AGCA:AGCAAGCA
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: AGCA=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.2043047_2043050dup, NC_000017.10:g.1946341_1946344dup, NG_051946.1:g.17936_17939dup, NM_001383.6:c.*461_*464dup, NM_001383.5:c.*461_*464dup, NM_001383.4:c.*461_*464dup, NM_001383.3:c.*461_*464dup, NR_144476.2:n.2177_2180dup, NR_144476.1:n.2218_2221dup, NR_144474.2:n.2151_2154dup, NR_144474.1:n.2192_2195dup, NR_144475.2:n.2118_2121dup, NR_144475.1:n.2159_2162dup, NM_001346576.2:c.*461_*464dup, NM_001346576.1:c.*461_*464dup, NM_001346574.1:c.*461_*464dup, NM_001346575.1:c.*461_*464dup, NM_080822.3:c.627_630dup, NM_080822.2:c.627_630dup, NP_543012.1:p.Ala211fs

Select item 146355093112.

rs1463550931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2042181 (GRCh38)
17:1945475 (GRCh37)
Canonical SPDI:: NC_000017.11:2042180:C:T
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.2042181C>T, NC_000017.10:g.1945475C>T, NG_051946.1:g.17070C>T, NM_080822.3:c.134C>T, NM_080822.2:c.134C>T, NP_543012.1:p.Pro45Leu

Select item 146238631813.

rs1462386318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2042837 (GRCh38)
17:1946131 (GRCh37)
Canonical SPDI:: NC_000017.11:2042836:C:T
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2042837C>T, NC_000017.10:g.1946131C>T, NG_051946.1:g.17726C>T, NM_001383.6:c.*251C>T, NM_001383.5:c.*251C>T, NM_001383.4:c.*251C>T, NM_001383.3:c.*251C>T, NR_144476.2:n.1967C>T, NR_144476.1:n.2008C>T, NR_144474.2:n.1941C>T, NR_144474.1:n.1982C>T, NR_144475.2:n.1908C>T, NR_144475.1:n.1949C>T, NM_001346576.2:c.*251C>T, NM_001346576.1:c.*251C>T, NM_001346574.1:c.*251C>T, NM_001346575.1:c.*251C>T, NM_080822.3:c.417C>T, NM_080822.2:c.417C>T

Select item 145938976214.

rs1459389762 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:2042651 (GRCh38)
17:1945946 (GRCh37)
Canonical SPDI:: NC_000017.11:2042651:C:CC
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.2042652dup, NC_000017.10:g.1945946dup, NG_051946.1:g.17541dup, NM_001383.6:c.*66dup, NM_001383.5:c.*66dup, NM_001383.4:c.*66dup, NM_001383.3:c.*66dup, NR_144476.2:n.1782dup, NR_144476.1:n.1823dup, NR_144474.2:n.1756dup, NR_144474.1:n.1797dup, NR_144475.2:n.1723dup, NR_144475.1:n.1764dup, NM_001346576.2:c.*66dup, NM_001346576.1:c.*66dup, NM_001346574.1:c.*66dup, NM_001346575.1:c.*66dup, NM_080822.3:c.232dup, NM_080822.2:c.232dup, NP_543012.1:p.Gln78fs

Select item 145606450315.

rs1456064503 has merged into rs1395978560 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCAGAGCGAGCGGGGCTTCCG>-,GCAGAGCGAGCGGGGCTTCCGGCAGAGCGAGCGGGGCTTCCG [Show Flanks]
Chromosome:: 17:2042095 (GRCh38)
17:1945389 (GRCh37)
Canonical SPDI:: NC_000017.11:2042085:GGGCTTCCGGCAGAGCGAGCGGGGCTTCCG:GGGCTTCCG,NC_000017.11:2042085:GGGCTTCCGGCAGAGCGAGCGGGGCTTCCG:GGGCTTCCGGCAGAGCGAGCGGGGCTTCCGGCAGAGCGAGCGGGGCTTCCG
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,intron_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: GGGCTTCCGGCAGAGCGAGCGGGGCTTCCGGCAGAGCGAGCGGGGCTTCCG=0./0 (ALFA)
-=0.000017/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2042095_2042115del, NC_000017.11:g.2042095_2042115dup, NC_000017.10:g.1945389_1945409del, NC_000017.10:g.1945389_1945409dup, NG_051946.1:g.16984_17004del, NG_051946.1:g.16984_17004dup, NM_080822.3:c.48_68del, NM_080822.3:c.48_68dup, NM_080822.2:c.48_68del, NM_080822.2:c.48_68dup, NP_543012.1:p.Gln17_Arg23del, NP_543012.1:p.Gln17_Arg23dup

Select item 145580892616.

rs1455808926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2042885 (GRCh38)
17:1946179 (GRCh37)
Canonical SPDI:: NC_000017.11:2042884:C:T
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.2042885C>T, NC_000017.10:g.1946179C>T, NG_051946.1:g.17774C>T, NM_001383.6:c.*299C>T, NM_001383.5:c.*299C>T, NM_001383.4:c.*299C>T, NM_001383.3:c.*299C>T, NR_144476.2:n.2015C>T, NR_144476.1:n.2056C>T, NR_144474.2:n.1989C>T, NR_144474.1:n.2030C>T, NR_144475.2:n.1956C>T, NR_144475.1:n.1997C>T, NM_001346576.2:c.*299C>T, NM_001346576.1:c.*299C>T, NM_001346574.1:c.*299C>T, NM_001346575.1:c.*299C>T, NM_080822.3:c.465C>T, NM_080822.2:c.465C>T

Select item 145572012117.

rs1455720121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:2042175 (GRCh38)
17:1945469 (GRCh37)
Canonical SPDI:: NC_000017.11:2042174:G:A,NC_000017.11:2042174:G:C
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.00006/1 (TOMMO)
HGVS:: NC_000017.11:g.2042175G>A, NC_000017.11:g.2042175G>C, NC_000017.10:g.1945469G>A, NC_000017.10:g.1945469G>C, NG_051946.1:g.17064G>A, NG_051946.1:g.17064G>C, NM_080822.3:c.128G>A, NM_080822.3:c.128G>C, NM_080822.2:c.128G>A, NM_080822.2:c.128G>C, NP_543012.1:p.Ser43Asn, NP_543012.1:p.Ser43Thr

Select item 145300673618.

rs1453006736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:2042677 (GRCh38)
17:1945971 (GRCh37)
Canonical SPDI:: NC_000017.11:2042676:T:C
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2042677T>C, NC_000017.10:g.1945971T>C, NG_051946.1:g.17566T>C, NM_001383.6:c.*91T>C, NM_001383.5:c.*91T>C, NM_001383.4:c.*91T>C, NM_001383.3:c.*91T>C, NR_144476.2:n.1807T>C, NR_144476.1:n.1848T>C, NR_144474.2:n.1781T>C, NR_144474.1:n.1822T>C, NR_144475.2:n.1748T>C, NR_144475.1:n.1789T>C, NM_001346576.2:c.*91T>C, NM_001346576.1:c.*91T>C, NM_001346574.1:c.*91T>C, NM_001346575.1:c.*91T>C, NM_080822.3:c.257T>C, NM_080822.2:c.257T>C, NP_543012.1:p.Leu86Ser

Select item 143822185119.

rs1438221851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:2042741 (GRCh38)
17:1946035 (GRCh37)
Canonical SPDI:: NC_000017.11:2042740:C:G
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2042741C>G, NC_000017.10:g.1946035C>G, NG_051946.1:g.17630C>G, NM_001383.6:c.*155C>G, NM_001383.5:c.*155C>G, NM_001383.4:c.*155C>G, NM_001383.3:c.*155C>G, NR_144476.2:n.1871C>G, NR_144476.1:n.1912C>G, NR_144474.2:n.1845C>G, NR_144474.1:n.1886C>G, NR_144475.2:n.1812C>G, NR_144475.1:n.1853C>G, NM_001346576.2:c.*155C>G, NM_001346576.1:c.*155C>G, NM_001346574.1:c.*155C>G, NM_001346575.1:c.*155C>G, NM_080822.3:c.321C>G, NM_080822.2:c.321C>G, NP_543012.1:p.Asn107Lys

Select item 143819770020.

rs1438197700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:2042135 (GRCh38)
17:1945429 (GRCh37)
Canonical SPDI:: NC_000017.11:2042134:A:C
Gene:: DPH1 (Varview), OVCA2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2042135A>C, NC_000017.10:g.1945429A>C, NG_051946.1:g.17024A>C, NM_080822.3:c.88A>C, NM_080822.2:c.88A>C