Linked Data
ClinVar Variation Id:
912986
ClinVar RCV Id:
RCV001166406
dbSNP Id:
rs148192743
gnomAD v2:
9-130577469-C-T
gnomAD v3:
9-127815190-C-T
gnomAD v4:
9-127815190-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815190C>T , CM000671.2:g.127815190C>T | GRCh38 |
| NC_000009.11:g.130577469C>T , CM000671.1:g.130577469C>T | GRCh37 |
| NC_000009.10:g.129617290C>T | NCBI36 |
| NG_009551.1:g.44579G>A , LRG_589:g.44579G>A | |
| NG_023245.1:g.17316C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.*492G>A | ENSP00000479015.1:n.*492G>A | |
| ENST00000373203.9:c.*492G>A MANE Select | ENSP00000362299.4:n.*492G>A | |
| ENST00000344849.4:c.*727G>A | ENSP00000341917.3:n.*727G>A | |
| ENST00000373203.8:c.*492G>A | ENSP00000362299.4:n.*492G>A | |
| ENST00000480266.5:c.*492G>A | ENSP00000479015.1:n.*492G>A | |
| NM_000118.3:c.*727G>A , LRG_589t1:c.*727G>A | NP_000109.1:n.*727G>A | |
| NM_001114753.2:c.*492G>A , LRG_589t2:c.*492G>A | NP_001108225.1:n.*492G>A | |
| NM_001278138.1:c.*492G>A | NP_001265067.1:n.*492G>A | |
| NM_001114753.3:c.*492G>A MANE Select | NP_001108225.1:n.*492G>A | |
| NM_001278138.2:c.*492G>A | NP_001265067.1:n.*492G>A |