Linked Data
ClinVar Variation Id:
1571919
dbSNP Id:
rs377504106
ExAC:
12:32955467 T / A
gnomAD v2:
12-32955467-T-A
gnomAD v3:
12-32802533-T-A
gnomAD v4:
12-32802533-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32802533T>A , CM000674.2:g.32802533T>A | GRCh38 |
| NC_000012.11:g.32955467T>A , CM000674.1:g.32955467T>A | GRCh37 |
| NC_000012.10:g.32846734T>A | NCBI36 |
| NG_009000.1:g.99314A>T , LRG_398:g.99314A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.540A>T | ||
| ENST00000700557.2:n.129A>T | ||
| ENST00000700559.2:c.2037A>T | ENSP00000515065.2:p.Thr679= | |
| ENST00000546498.2:n.724A>T | ||
| ENST00000549461.2:n.576A>T | ||
| ENST00000700555.1:c.468A>T | ENSP00000515062.1:p.Thr156= | |
| ENST00000700556.1:c.508A>T | ||
| ENST00000700557.1:c.48A>T | ENSP00000515064.1:p.Thr16= | |
| ENST00000700558.1:n.251A>T | ||
| ENST00000700559.1:c.1252A>T | ||
| ENST00000700560.1:n.1252A>T | ||
| ENST00000700561.1:n.1378A>T | ||
| ENST00000070846.11:c.2169A>T | ENSP00000070846.6:p.Thr723= | |
| ENST00000340811.9:c.2037A>T MANE Select | ENSP00000342800.5:p.Thr679= | |
| ENST00000070846.10:c.2169A>T | ENSP00000070846.6:p.Thr723= | |
| ENST00000340811.8:c.2037A>T | ENSP00000342800.4:p.Thr679= | |
| ENST00000549461.1:n.483A>T | ||
| ENST00000613243.1:c.2169A>T | ENSP00000478295.1:p.Thr723= | |
| NM_001005242.2:c.2037A>T | NP_001005242.2:p.Thr679= | |
| NM_004572.3:c.2169A>T , LRG_398t1:c.2169A>T | NP_004563.2:p.Thr723= | |
| NM_001005242.3:c.2037A>T MANE Select | NP_001005242.2:p.Thr679= | |
| NM_004572.4:c.2169A>T | NP_004563.2:p.Thr723= |