Linked Data
ClinVar Variation Id:
1775664
ClinVar RCV Id:
RCV002392646
gnomAD v4:
1-15440517-G-C
COSMIC:
COSM1985320
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15440517G>C , CM000663.2:g.15440517G>C | GRCh38 |
| NC_000001.10:g.15767013G>C , CM000663.1:g.15767013G>C | GRCh37 |
| NC_000001.9:g.15639600G>C | NCBI36 |
| NG_009253.1:g.7076G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.157G>C MANE Select | ENSP00000365116.4:p.Asp53His | |
| ENST00000375943.6:c.41-1930G>C | ENSP00000365110.2:n.41-1930G>C | |
| ENST00000375949.4:c.157G>C | ENSP00000365116.4:p.Asp53His | |
| ENST00000476813.5:n.53-1930G>C | ||
| ENST00000483406.1:n.67G>C | ||
| NM_007272.2:c.157G>C | NP_009203.2:p.Asp53His | |
| XM_011540550.1:c.157G>C | XP_011538852.1:p.Asp53His | |
| NM_007272.3:c.157G>C MANE Select | NP_009203.2:p.Asp53His |