Linked Data
ClinVar Variation Id:
1042062
ClinVar RCV Id:
RCV001345954
dbSNP Id:
rs200080694
ExAC:
9:130578303 C / T
gnomAD v2:
9-130578303-C-T
gnomAD v3:
9-127816024-C-T
gnomAD v4:
9-127816024-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127816024C>T , CM000671.2:g.127816024C>T | GRCh38 |
| NC_000009.11:g.130578303C>T , CM000671.1:g.130578303C>T | GRCh37 |
| NC_000009.10:g.129618124C>T | NCBI36 |
| NG_009551.1:g.43745G>A , LRG_589:g.43745G>A | |
| NG_023245.1:g.18150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.1225G>A | ENSP00000479015.1:p.Ala409Thr | |
| ENST00000373203.9:c.1771G>A MANE Select | ENSP00000362299.4:p.Ala591Thr | |
| ENST00000344849.4:c.1771G>A | ENSP00000341917.3:p.Ala591Thr | |
| ENST00000373203.8:c.1771G>A | ENSP00000362299.4:p.Ala591Thr | |
| ENST00000480266.5:c.1225G>A | ENSP00000479015.1:p.Ala409Thr | |
| NM_000118.3:c.1771G>A , LRG_589t1:c.1771G>A | NP_000109.1:p.Ala591Thr | |
| NM_001114753.2:c.1771G>A , LRG_589t2:c.1771G>A | NP_001108225.1:p.Ala591Thr | |
| NM_001278138.1:c.1225G>A | NP_001265067.1:p.Ala409Thr | |
| NM_001114753.3:c.1771G>A MANE Select | NP_001108225.1:p.Ala591Thr | |
| NM_001278138.2:c.1225G>A | NP_001265067.1:p.Ala409Thr |