Linked Data
ClinVar Variation Id:
528068
dbSNP Id:
rs121918402
ExAC:
9:130591966 G / A
gnomAD v2:
9-130591966-G-A
gnomAD v3:
9-127829687-G-A
gnomAD v4:
9-127829687-G-A
COSMIC:
COSM1643748
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127829687G>A , CM000671.2:g.127829687G>A | GRCh38 |
| NC_000009.11:g.130591966G>A , CM000671.1:g.130591966G>A | GRCh37 |
| NC_000009.10:g.129631787G>A | NCBI36 |
| NG_009551.1:g.30082C>T , LRG_589:g.30082C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.-187C>T | ENSP00000479015.1:n.-187C>T | |
| ENST00000373203.9:c.360C>T MANE Select | ENSP00000362299.4:p.Tyr120= | |
| ENST00000344849.4:c.360C>T | ENSP00000341917.3:p.Tyr120= | |
| ENST00000373203.8:c.360C>T | ENSP00000362299.4:p.Tyr120= | |
| ENST00000462196.1:n.118C>T | ||
| ENST00000480266.5:c.-187C>T | ENSP00000479015.1:n.-187C>T | |
| NM_000118.3:c.360C>T , LRG_589t1:c.360C>T | NP_000109.1:p.Tyr120= | |
| NM_001114753.2:c.360C>T , LRG_589t2:c.360C>T | NP_001108225.1:p.Tyr120= | |
| NM_001278138.1:c.-187C>T | NP_001265067.1:n.-187C>T | |
| XR_001746952.2:n.83-2711G>A | ||
| NM_001114753.3:c.360C>T MANE Select | NP_001108225.1:p.Tyr120= | |
| NM_001278138.2:c.-187C>T | NP_001265067.1:n.-187C>T |