Linked Data
ClinVar Variation Id:
1521862
ClinVar RCV Id:
RCV002034126
dbSNP Id:
rs202041210
ExAC:
19:15291000 G / A
gnomAD v2:
19-15291000-G-A
gnomAD v3:
19-15180189-G-A
gnomAD v4:
19-15180189-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180189G>A , CM000681.2:g.15180189G>A | GRCh38 |
| NC_000019.9:g.15291000G>A , CM000681.1:g.15291000G>A | GRCh37 |
| NC_000019.8:g.15152000G>A | NCBI36 |
| NG_009819.1:g.25793C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3210C>T MANE Select | ENSP00000263388.1:p.Cys1070= | |
| ENST00000263388.6:c.3210C>T | ENSP00000263388.1:p.Cys1070= | |
| ENST00000601011.1:c.3051C>T | ENSP00000473138.1:p.Cys1017= | |
| NM_000435.2:c.3210C>T | NP_000426.2:p.Cys1070= | |
| XM_005259924.3:c.3054C>T | XP_005259981.1:p.Cys1018= | |
| XM_005259924.4:c.3054C>T | XP_005259981.1:p.Cys1018= | |
| NM_000435.3:c.3210C>T MANE Select | NP_000426.2:p.Cys1070= |