Linked Data
dbSNP Id:
rs758677590
ExAC:
9:120475949 G / A
gnomAD v2:
9-120475949-G-A
gnomAD v3:
9-117713671-G-A
gnomAD v4:
9-117713671-G-A
COSMIC:
COSM233589
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117713671G>A , CM000671.2:g.117713671G>A | GRCh38 |
| NC_000009.11:g.120475949G>A , CM000671.1:g.120475949G>A | GRCh37 |
| NC_000009.10:g.119515770G>A | NCBI36 |
| NG_011475.1:g.14490G>A | |
| NG_011475.2:g.14269G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646089.2:c.93+9106G>A | ENSP00000496197.1:n.93+9106G>A | |
| ENST00000697624.1:n.200+9106G>A | ||
| ENST00000697625.1:c.93+9106G>A | ENSP00000513362.1:n.93+9106G>A | |
| ENST00000697636.1:c.93+9106G>A | ENSP00000513366.1:n.93+9106G>A | |
| ENST00000697637.1:c.93+9106G>A | ENSP00000513367.1:n.93+9106G>A | |
| ENST00000697664.1:c.140+4942G>A | ENSP00000513389.1:n.140+4942G>A | |
| ENST00000697665.1:c.93+9106G>A | ENSP00000513390.1:n.93+9106G>A | |
| ENST00000697666.1:c.140+4942G>A | ENSP00000513391.1:n.140+4942G>A | |
| ENST00000355622.8:c.1543G>A MANE Select | ENSP00000363089.5:p.Ala515Thr | |
| ENST00000394487.5:c.1423G>A | ENSP00000377997.4:p.Ala475Thr | |
| ENST00000472304.2:c.*1277G>A | ENSP00000496429.1:n.*1277G>A | |
| ENST00000642985.1:c.260+4942G>A | ENSP00000493686.1:n.260+4942G>A | |
| ENST00000646089.1:c.93+9106G>A | ENSP00000496197.1:n.93+9106G>A | |
| ENST00000665764.1:c.93+9106G>A | ENSP00000499745.1:n.93+9106G>A | |
| ENST00000355622.6:c.1543G>A | ENSP00000363089.5:p.Ala515Thr | |
| ENST00000394487.4:c.1423G>A | ENSP00000377997.4:p.Ala475Thr | |
| ENST00000472304.1:n.1460G>A | ||
| NM_003266.3:c.1423G>A | NP_003257.1:p.Ala475Thr | |
| NM_138554.4:c.1543G>A | NP_612564.1:p.Ala515Thr | |
| NM_138557.2:c.943G>A | NP_612567.1:p.Ala315Thr | |
| NM_138554.5:c.1543G>A MANE Select | NP_612564.1:p.Ala515Thr | |
| NM_003266.4:c.1423G>A | NP_003257.1:p.Ala475Thr | |
| NM_138557.3:c.943G>A | NP_612567.1:p.Ala315Thr |