Linked Data
ClinVar Variation Id:
365912
ClinVar RCV Id:
RCV000375973
dbSNP Id:
rs777619886
gnomAD v2:
9-139568040-G-T
gnomAD v3:
9-136673588-G-T
gnomAD v4:
9-136673588-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673588G>T , CM000671.2:g.136673588G>T | GRCh38 |
| NC_000009.11:g.139568040G>T , CM000671.1:g.139568040G>T | GRCh37 |
| NC_000009.10:g.138687861G>T | NCBI36 |
| NG_008090.1:g.18872C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.*164C>A MANE Select | ENSP00000360761.2:n.*164C>A | |
| ENST00000371694.7:c.*164C>A | ENSP00000360759.3:n.*164C>A | |
| ENST00000371696.6:c.*164C>A | ENSP00000360761.2:n.*164C>A | |
| ENST00000538402.1:c.*164C>A | ENSP00000438919.1:n.*164C>A | |
| NM_001012727.1:c.*164C>A | NP_001012745.1:n.*164C>A | |
| NM_006412.3:c.*164C>A | NP_006403.2:n.*164C>A | |
| NM_006412.4:c.*164C>A MANE Select | NP_006403.2:n.*164C>A | |
| NM_001012727.2:c.*164C>A | NP_001012745.1:n.*164C>A |