Linked Data
ClinVar Variation Id:
98600
ClinVar RCV Id:
RCV000084895
dbSNP Id:
rs61750198
gnomAD v4:
17-8003388-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8003388T>C , CM000679.2:g.8003388T>C | GRCh38 |
| NC_000017.10:g.7906706T>C , CM000679.1:g.7906706T>C | GRCh37 |
| NC_000017.9:g.7847431T>C | NCBI36 |
| NG_009092.1:g.5719T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.341T>C MANE Select | ENSP00000254854.4:p.Val114Ala | |
| ENST00000254854.4:c.341T>C | ENSP00000254854.4:p.Val114Ala | |
| NM_000180.3:c.341T>C | NP_000171.1:p.Val114Ala | |
| XM_011523816.1:c.341T>C | XP_011522118.1:p.Val114Ala | |
| NM_000180.4:c.341T>C MANE Select | NP_000171.1:p.Val114Ala |