Linked Data
ClinVar Variation Id:
237020
dbSNP Id:
rs140760635
ExAC:
9:130580552 C / T
gnomAD v2:
9-130580552-C-T
gnomAD v3:
9-127818273-C-T
gnomAD v4:
9-127818273-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127818273C>T , CM000671.2:g.127818273C>T | GRCh38 |
| NC_000009.11:g.130580552C>T , CM000671.1:g.130580552C>T | GRCh37 |
| NC_000009.10:g.129620373C>T | NCBI36 |
| NG_009551.1:g.41496G>A , LRG_589:g.41496G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.987G>A | ENSP00000479015.1:p.Ala329= | |
| ENST00000373203.9:c.1533G>A MANE Select | ENSP00000362299.4:p.Ala511= | |
| ENST00000344849.4:c.1533G>A | ENSP00000341917.3:p.Ala511= | |
| ENST00000373203.8:c.1533G>A | ENSP00000362299.4:p.Ala511= | |
| ENST00000480266.5:c.987G>A | ENSP00000479015.1:p.Ala329= | |
| NM_000118.3:c.1533G>A , LRG_589t1:c.1533G>A | NP_000109.1:p.Ala511= | |
| NM_001114753.2:c.1533G>A , LRG_589t2:c.1533G>A | NP_001108225.1:p.Ala511= | |
| NM_001278138.1:c.987G>A | NP_001265067.1:p.Ala329= | |
| NR_136302.1:n.1378-38C>T | ||
| NM_001114753.3:c.1533G>A MANE Select | NP_001108225.1:p.Ala511= | |
| NM_001278138.2:c.987G>A | NP_001265067.1:p.Ala329= |