Linked Data
ClinVar Variation Id:
458336
dbSNP Id:
rs200168633
ExAC:
9:130581034 G / A
gnomAD v2:
9-130581034-G-A
gnomAD v3:
9-127818755-G-A
gnomAD v4:
9-127818755-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127818755G>A , CM000671.2:g.127818755G>A | GRCh38 |
| NC_000009.11:g.130581034G>A , CM000671.1:g.130581034G>A | GRCh37 |
| NC_000009.10:g.129620855G>A | NCBI36 |
| NG_009551.1:g.41014C>T , LRG_589:g.41014C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.843C>T | ENSP00000479015.1:p.Ala281= | |
| ENST00000373203.9:c.1389C>T MANE Select | ENSP00000362299.4:p.Ala463= | |
| ENST00000344849.4:c.1389C>T | ENSP00000341917.3:p.Ala463= | |
| ENST00000373203.8:c.1389C>T | ENSP00000362299.4:p.Ala463= | |
| ENST00000480266.5:c.843C>T | ENSP00000479015.1:p.Ala281= | |
| NM_000118.3:c.1389C>T , LRG_589t1:c.1389C>T | NP_000109.1:p.Ala463= | |
| NM_001114753.2:c.1389C>T , LRG_589t2:c.1389C>T | NP_001108225.1:p.Ala463= | |
| NM_001278138.1:c.843C>T | NP_001265067.1:p.Ala281= | |
| NR_136302.1:n.1568+44G>A | ||
| NM_001114753.3:c.1389C>T MANE Select | NP_001108225.1:p.Ala463= | |
| NM_001278138.2:c.843C>T | NP_001265067.1:p.Ala281= |