Linked Data
ClinVar Variation Id:
542870
ClinVar RCV Id:
RCV000653403
dbSNP Id:
rs1554736531
gnomAD v4:
9-109167176-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.109167176G>A , CM000671.2:g.109167176G>A | GRCh38 |
| NC_000009.11:g.111929456G>A , CM000671.1:g.111929456G>A | GRCh37 |
| NC_000009.10:g.110969277G>A | NCBI36 |
| NG_051235.1:g.5116C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561981.5:c.-38C>T MANE Select | ENSP00000477141.2:n.-38C>T | |
| ENST00000561981.2:c.116C>T | ENSP00000477141.1:p.Ala39Val | |
| NM_014334.2:c.116C>T | NP_055149.2:p.Ala39Val | |
| NM_014334.3:c.116C>T | NP_055149.2:p.Ala39Val | |
| NM_014334.4:c.-38C>T MANE Select | NP_055149.3:n.-38C>T |