Linked Data
ClinVar Variation Id:
190156
ClinVar RCV Id:
RCV000170374
RCV000344840
RCV000384253
RCV000289884
RCV000515272
RCV000724215
RCV002515214
dbSNP Id:
rs61760163
ExAC:
10:50690906 G / A
gnomAD v2:
10-50690906-G-A
gnomAD v3:
10-49482860-G-A
gnomAD v4:
10-49482860-G-A
COSMIC:
COSM3438385
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49482860G>A , CM000672.2:g.49482860G>A | GRCh38 |
| NC_000010.10:g.50690906G>A , CM000672.1:g.50690906G>A | GRCh37 |
| NC_000010.9:g.50360912G>A | NCBI36 |
| NG_009442.1:g.61242C>T , LRG_465:g.61242C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1996C>T MANE Select | ENSP00000348089.5:p.Arg666Cys | |
| ENST00000681632.1:n.2074C>T | ||
| ENST00000681659.1:c.1837C>T | ENSP00000505631.1:p.Arg613Cys | |
| ENST00000355832.9:c.1996C>T | ENSP00000348089.5:p.Arg666Cys | |
| ENST00000623073.3:c.*388C>T | ENSP00000485650.1:n.*388C>T | |
| ENST00000623115.3:c.106C>T | ENSP00000485321.1:p.Arg36Cys | |
| NM_000124.3:c.1996C>T | NP_000115.1:p.Arg666Cys | |
| NM_001346440.1:c.1996C>T | NP_001333369.1:p.Arg666Cys | |
| NM_000124.4:c.1996C>T MANE Select | NP_000115.1:p.Arg666Cys | |
| NM_001346440.2:c.1996C>T | NP_001333369.1:p.Arg666Cys |