Linked Data
dbSNP Id:
rs371525707
ExAC:
19:15291062 G / T
gnomAD v2:
19-15291062-G-T
gnomAD v4:
19-15180251-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180251G>T , CM000681.2:g.15180251G>T | GRCh38 |
| NC_000019.9:g.15291062G>T , CM000681.1:g.15291062G>T | GRCh37 |
| NC_000019.8:g.15152062G>T | NCBI36 |
| NG_009819.1:g.25731C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3148C>A MANE Select | ENSP00000263388.1:p.Arg1050= | |
| ENST00000263388.6:c.3148C>A | ENSP00000263388.1:p.Arg1050= | |
| ENST00000601011.1:c.2989C>A | ENSP00000473138.1:p.Arg997= | |
| NM_000435.2:c.3148C>A | NP_000426.2:p.Arg1050= | |
| XM_005259924.3:c.2992C>A | XP_005259981.1:p.Arg998= | |
| XM_005259924.4:c.2992C>A | XP_005259981.1:p.Arg998= | |
| NM_000435.3:c.3148C>A MANE Select | NP_000426.2:p.Arg1050= |