Linked Data
ClinVar Variation Id:
8959
ClinVar RCV Id:
RCV000009519
RCV000202513
RCV001004160
RCV003317032
RCV002490348
RCV003473066
RCV003450624
dbSNP Id:
rs74315296
ExAC:
1:53676853 C / T
gnomAD v2:
1-53676853-C-T
gnomAD v3:
1-53211181-C-T
gnomAD v4:
1-53211181-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53211181C>T , CM000663.2:g.53211181C>T | GRCh38 |
| NC_000001.10:g.53676853C>T , CM000663.1:g.53676853C>T | GRCh37 |
| NC_000001.9:g.53449441C>T | NCBI36 |
| NG_008035.1:g.19753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.1507C>T MANE Select | ENSP00000360541.3:p.Arg503Cys | |
| ENST00000635862.1:c.1507C>T | ENSP00000490867.1:p.Arg503Cys | |
| ENST00000635888.1:c.*1493C>T | ENSP00000490042.1:n.*1493C>T | |
| ENST00000636239.1:c.*1154C>T | ENSP00000490066.1:n.*1154C>T | |
| ENST00000636867.1:c.1507C>T | ENSP00000489631.1:p.Arg503Cys | |
| ENST00000636891.1:c.1507C>T | ENSP00000490399.1:p.Arg503Cys | |
| ENST00000636935.1:c.341-2083C>T | ENSP00000489757.1:n.341-2083C>T | |
| ENST00000637252.1:c.1507C>T | ENSP00000490492.1:p.Arg503Cys | |
| ENST00000637726.1:n.3707C>T | ||
| ENST00000638135.1:c.*1154C>T | ENSP00000489756.1:n.*1154C>T | |
| ENST00000371486.3:c.1507C>T | ENSP00000360541.3:p.Arg503Cys | |
| NM_000098.2:c.1507C>T | NP_000089.1:p.Arg503Cys | |
| XM_005270484.1:c.1507C>T | XP_005270541.1:p.Arg503Cys | |
| NM_001330589.1:c.1507C>T | NP_001317518.1:p.Arg503Cys | |
| NM_000098.3:c.1507C>T MANE Select | NP_000089.1:p.Arg503Cys | |
| NM_001330589.2:c.1507C>T | NP_001317518.1:p.Arg503Cys |