Linked Data
ClinVar Variation Id:
384319
ClinVar RCV Id:
RCV000432643
RCV001003268
RCV001074794
RCV001095706
RCV002271497
RCV002272234
RCV004533027
RCV003992295
dbSNP Id:
rs199840367
ExAC:
1:216143987 C / A
gnomAD v2:
1-216143987-C-A
gnomAD v3:
1-215970645-C-A
gnomAD v4:
1-215970645-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215970645C>A , CM000663.2:g.215970645C>A | GRCh38 |
| NC_000001.10:g.216143987C>A , CM000663.1:g.216143987C>A | GRCh37 |
| NC_000001.9:g.214210610C>A | NCBI36 |
| NG_009497.1:g.457752G>T | |
| NG_009497.2:g.457804G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.6937G>T MANE Select | ENSP00000305941.3:p.Gly2313Cys | |
| ENST00000674083.1:c.6937G>T | ENSP00000501296.1:p.Gly2313Cys | |
| ENST00000307340.7:c.6937G>T | ENSP00000305941.3:p.Gly2313Cys | |
| NM_206933.2:c.6937G>T | NP_996816.2:p.Gly2313Cys | |
| NM_206933.3:c.6937G>T | NP_996816.2:p.Gly2313Cys | |
| NM_206933.4:c.6937G>T MANE Select | NP_996816.3:p.Gly2313Cys |