Linked Data
ClinVar Variation Id:
2401
ClinVar RCV Id:
RCV000002502
dbSNP Id:
rs28940286
ExAC:
7:65557553 C / T
gnomAD v2:
7-65557553-C-T
gnomAD v3:
7-66092566-C-T
gnomAD v4:
7-66092566-C-T
COSMIC:
COSM5565862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66092566C>T , CM000669.2:g.66092566C>T | GRCh38 |
| NC_000007.13:g.65557553C>T , CM000669.1:g.65557553C>T | GRCh37 |
| NC_000007.12:g.65194988C>T | NCBI36 |
| NG_009288.1:g.21778C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.1153C>T MANE Select | ENSP00000307188.9:p.Arg385Cys | |
| ENST00000362000.10:c.958C>T | ENSP00000354710.6:p.Arg320Cys | |
| ENST00000380839.9:c.1075C>T | ENSP00000370219.4:p.Arg359Cys | |
| ENST00000395331.4:c.1093C>T | ENSP00000378740.3:p.Arg365Cys | |
| ENST00000395332.8:c.1153C>T | ENSP00000378741.3:p.Arg385Cys | |
| ENST00000488343.2:c.148-338C>T | ENSP00000500864.1:n.148-338C>T | |
| ENST00000672498.1:c.*452C>T | ENSP00000500227.1:n.*452C>T | |
| ENST00000672586.1:n.1912C>T | ||
| ENST00000672676.1:n.2177C>T | ||
| ENST00000673149.1:n.965C>T | ||
| ENST00000673350.1:n.3270C>T | ||
| ENST00000673518.1:c.1075C>T | ENSP00000499889.1:p.Arg359Cys | |
| ENST00000304874.13:c.1153C>T | ENSP00000307188.9:p.Arg385Cys | |
| ENST00000380839.8:c.1075C>T | ENSP00000370219.4:p.Arg359Cys | |
| ENST00000395331.3:c.1093C>T | ENSP00000378740.3:p.Arg365Cys | |
| ENST00000395332.7:c.1153C>T | ENSP00000378741.3:p.Arg385Cys | |
| ENST00000450043.2:c.466C>T | ENSP00000396527.2:p.Arg156Cys | |
| ENST00000464970.1:n.356C>T | ||
| ENST00000488343.1:n.148-338C>T | ||
| ENST00000493708.5:n.634C>T | ||
| NM_000048.3:c.1153C>T | NP_000039.2:p.Arg385Cys | |
| NM_001024943.1:c.1153C>T | NP_001020114.1:p.Arg385Cys | |
| NM_001024944.1:c.1093C>T | NP_001020115.1:p.Arg365Cys | |
| NM_001024946.1:c.1075C>T | NP_001020117.1:p.Arg359Cys | |
| NM_000048.4:c.1153C>T MANE Select | NP_000039.2:p.Arg385Cys | |
| NM_001024943.2:c.1153C>T | NP_001020114.1:p.Arg385Cys | |
| NM_001024944.2:c.1093C>T | NP_001020115.1:p.Arg365Cys | |
| NM_001024946.2:c.1075C>T | NP_001020117.1:p.Arg359Cys |