Linked Data
ClinVar Variation Id:
924
dbSNP Id:
rs72555359
ExAC:
3:33058311 G / A
gnomAD v2:
3-33058311-G-A
gnomAD v3:
3-33016819-G-A
gnomAD v4:
3-33016819-G-A
PubMed:
PMID:1909089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33016819G>A , CM000665.2:g.33016819G>A | GRCh38 |
| NC_000003.11:g.33058311G>A , CM000665.1:g.33058311G>A | GRCh37 |
| NC_000003.10:g.33033315G>A | NCBI36 |
| NG_009005.1:g.85384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1369C>T MANE Select | ENSP00000306920.4:p.Arg457Ter | |
| ENST00000307363.9:c.1369C>T | ENSP00000306920.4:p.Arg457Ter | |
| ENST00000307377.12:c.976C>T | ENSP00000305920.8:p.Arg326Ter | |
| ENST00000399402.7:c.1279C>T | ENSP00000382333.2:p.Arg427Ter | |
| ENST00000461475.5:n.468C>T | ||
| ENST00000467571.5:n.406C>T | ||
| ENST00000497796.5:n.621C>T | ||
| NM_000404.2:c.1369C>T | NP_000395.2:p.Arg457Ter | |
| NM_000404.3:c.1369C>T | NP_000395.2:p.Arg457Ter | |
| NM_001079811.1:c.1279C>T | NP_001073279.1:p.Arg427Ter | |
| NM_001079811.2:c.1279C>T | NP_001073279.1:p.Arg427Ter | |
| NM_001135602.1:c.976C>T | NP_001129074.1:p.Arg326Ter | |
| NM_001135602.2:c.976C>T | NP_001129074.1:p.Arg326Ter | |
| NM_001317040.1:c.1513C>T | NP_001303969.1:p.Arg505Ter | |
| NM_000404.4:c.1369C>T MANE Select | NP_000395.3:p.Arg457Ter | |
| NM_001079811.3:c.1279C>T | NP_001073279.2:p.Arg427Ter | |
| NM_001135602.3:c.976C>T | NP_001129074.2:p.Arg326Ter | |
| NM_001317040.2:c.1513C>T | NP_001303969.2:p.Arg505Ter | |
| NM_001393580.1:c.1369C>T | NP_001380509.1:p.Arg457Ter |