Linked Data
ClinVar Variation Id:
994828
ClinVar RCV Id:
RCV001288525
dbSNP Id:
rs1317994194
gnomAD v2:
19-15298087-C-A
gnomAD v4:
19-15187276-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15187276C>A , CM000681.2:g.15187276C>A | GRCh38 |
| NC_000019.9:g.15298087C>A , CM000681.1:g.15298087C>A | GRCh37 |
| NC_000019.8:g.15159087C>A | NCBI36 |
| NG_009819.1:g.18706G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.1669G>T MANE Select | ENSP00000263388.1:p.Gly557Cys | |
| ENST00000263388.6:c.1669G>T | ENSP00000263388.1:p.Gly557Cys | |
| ENST00000601011.1:c.1666G>T | ENSP00000473138.1:p.Gly556Cys | |
| NM_000435.2:c.1669G>T | NP_000426.2:p.Gly557Cys | |
| XM_005259924.3:c.1669G>T | XP_005259981.1:p.Gly557Cys | |
| XM_005259924.4:c.1669G>T | XP_005259981.1:p.Gly557Cys | |
| NM_000435.3:c.1669G>T MANE Select | NP_000426.2:p.Gly557Cys |