Linked Data
dbSNP Id:
rs772583230
ExAC:
9:140130575 G / A
gnomAD v2:
9-140130575-G-A
gnomAD v4:
9-137236123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137236123G>A , CM000671.2:g.137236123G>A | GRCh38 |
| NC_000009.11:g.140130575G>A , CM000671.1:g.140130575G>A | GRCh37 |
| NC_000009.10:g.139250396G>A | NCBI36 |
| NG_017008.1:g.10367G>A | |
| NG_017008.2:g.10223G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673835.1:c.1507G>A MANE Select | ENSP00000501114.1:p.Ala503Thr | |
| ENST00000361134.2:c.1507G>A | ENSP00000355353.2:p.Ala503Thr | |
| ENST00000538474.5:c.1507G>A | ENSP00000442397.1:p.Ala503Thr | |
| NM_001177316.1:c.1507G>A | NP_001170787.1:p.Ala503Thr | |
| NM_001177317.1:c.1507G>A | NP_001170788.1:p.Ala503Thr | |
| NM_080877.2:c.1507G>A | NP_543153.1:p.Ala503Thr | |
| XM_017014291.1:c.*66G>A | XP_016869780.1:n.*66G>A | |
| XM_017014292.1:c.1507G>A | XP_016869781.1:p.Ala503Thr | |
| NM_001177316.2:c.1507G>A MANE Select | NP_001170787.2:p.Ala503Thr | |
| NM_001177317.2:c.1507G>A | NP_001170788.2:p.Ala503Thr | |
| NM_080877.3:c.1507G>A | NP_543153.2:p.Ala503Thr |