Linked Data
dbSNP Id:
rs554072090
ExAC:
9:130592055 A / T
gnomAD v2:
9-130592055-A-T
gnomAD v3:
9-127829776-A-T
gnomAD v4:
9-127829776-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127829776A>T , CM000671.2:g.127829776A>T | GRCh38 |
| NC_000009.11:g.130592055A>T , CM000671.1:g.130592055A>T | GRCh37 |
| NC_000009.10:g.129631876A>T | NCBI36 |
| NG_009551.1:g.29993T>A , LRG_589:g.29993T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.-276T>A | ENSP00000479015.1:n.-276T>A | |
| ENST00000373203.9:c.271T>A MANE Select | ENSP00000362299.4:p.Trp91Arg | |
| ENST00000344849.4:c.271T>A | ENSP00000341917.3:p.Trp91Arg | |
| ENST00000373203.8:c.271T>A | ENSP00000362299.4:p.Trp91Arg | |
| ENST00000462196.1:n.29T>A | ||
| ENST00000480266.5:c.-276T>A | ENSP00000479015.1:n.-276T>A | |
| NM_000118.3:c.271T>A , LRG_589t1:c.271T>A | NP_000109.1:p.Trp91Arg | |
| NM_001114753.2:c.271T>A , LRG_589t2:c.271T>A | NP_001108225.1:p.Trp91Arg | |
| NM_001278138.1:c.-276T>A | NP_001265067.1:n.-276T>A | |
| XR_001746952.2:n.83-2622A>T | ||
| NM_001114753.3:c.271T>A MANE Select | NP_001108225.1:p.Trp91Arg | |
| NM_001278138.2:c.-276T>A | NP_001265067.1:n.-276T>A |