Linked Data
ClinVar Variation Id:
365076
ClinVar RCV Id:
RCV000396065
dbSNP Id:
rs72616667
gnomAD v2:
9-130577438-T-C
gnomAD v3:
9-127815159-T-C
gnomAD v4:
9-127815159-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815159T>C , CM000671.2:g.127815159T>C | GRCh38 |
| NC_000009.11:g.130577438T>C , CM000671.1:g.130577438T>C | GRCh37 |
| NC_000009.10:g.129617259T>C | NCBI36 |
| NG_009551.1:g.44610A>G , LRG_589:g.44610A>G | |
| NG_023245.1:g.17285T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.*523A>G | ENSP00000479015.1:n.*523A>G | |
| ENST00000373203.9:c.*523A>G MANE Select | ENSP00000362299.4:n.*523A>G | |
| ENST00000344849.4:c.*758A>G | ENSP00000341917.3:n.*758A>G | |
| ENST00000373203.8:c.*523A>G | ENSP00000362299.4:n.*523A>G | |
| ENST00000480266.5:c.*523A>G | ENSP00000479015.1:n.*523A>G | |
| NM_000118.3:c.*758A>G , LRG_589t1:c.*758A>G | NP_000109.1:n.*758A>G | |
| NM_001114753.2:c.*523A>G , LRG_589t2:c.*523A>G | NP_001108225.1:n.*523A>G | |
| NM_001278138.1:c.*523A>G | NP_001265067.1:n.*523A>G | |
| NM_001114753.3:c.*523A>G MANE Select | NP_001108225.1:n.*523A>G | |
| NM_001278138.2:c.*523A>G | NP_001265067.1:n.*523A>G |