Linked Data
ClinVar Variation Id:
976939
ClinVar RCV Id:
RCV001254444
dbSNP Id:
rs756099295
ExAC:
9:80919785 C / T
gnomAD v2:
9-80919785-C-T
gnomAD v4:
9-78304869-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304869C>T , CM000671.2:g.78304869C>T | GRCh38 |
| NC_000009.11:g.80919785C>T , CM000671.1:g.80919785C>T | GRCh37 |
| NC_000009.10:g.80109605C>T | NCBI36 |
| NG_012165.1:g.12727C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.326C>T MANE Select | ENSP00000365773.3:p.Ala109Val | |
| ENST00000347159.6:c.326C>T | ENSP00000317606.2:p.Ala109Val | |
| ENST00000376588.3:c.326C>T | ENSP00000365773.3:p.Ala109Val | |
| NM_021154.4:c.326C>T | NP_066977.1:p.Ala109Val | |
| NM_058179.3:c.326C>T | NP_478059.1:p.Ala109Val | |
| NM_058179.4:c.326C>T MANE Select | NP_478059.1:p.Ala109Val | |
| NM_021154.5:c.326C>T | NP_066977.1:p.Ala109Val |