Linked Data
dbSNP Id:
rs746983551
ExAC:
19:15297938 G / A
gnomAD v2:
19-15297938-G-A
gnomAD v4:
19-15187127-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15187127G>A , CM000681.2:g.15187127G>A | GRCh38 |
| NC_000019.9:g.15297938G>A , CM000681.1:g.15297938G>A | GRCh37 |
| NC_000019.8:g.15158938G>A | NCBI36 |
| NG_009819.1:g.18855C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263388.7:c.1818C>T MANE Select | ENSP00000263388.1:p.Cys606= | |
| ENST00000263388.6:c.1818C>T | ENSP00000263388.1:p.Cys606= | |
| ENST00000601011.1:c.1815C>T | ENSP00000473138.1:p.Cys605= | |
| NM_000435.2:c.1818C>T | NP_000426.2:p.Cys606= | |
| XM_005259924.3:c.1818C>T | XP_005259981.1:p.Cys606= | |
| XM_005259924.4:c.1818C>T | XP_005259981.1:p.Cys606= | |
| NM_000435.3:c.1818C>T MANE Select | NP_000426.2:p.Cys606= |