Linked Data
ClinVar Variation Id:
3018468
ClinVar RCV Id:
RCV003877131
dbSNP Id:
rs1208830277
gnomAD v2:
19-12997883-C-A
gnomAD v4:
19-12887069-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887069C>A , CM000681.2:g.12887069C>A | GRCh38 |
| NC_000019.9:g.12997883C>A , CM000681.1:g.12997883C>A | GRCh37 |
| NC_000019.8:g.12858883C>A | NCBI36 |
| NG_009292.1:g.910C>A | |
| NG_013087.1:g.5135G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.72G>T MANE Select | ENSP00000264834.3:p.Gln24His | |
| ENST00000264834.4:c.72G>T | ENSP00000264834.3:p.Gln24His | |
| NM_006563.3:c.72G>T | NP_006554.1:p.Gln24His | |
| XM_011527642.1:c.-132G>T | XP_011525944.1:n.-132G>T | |
| NM_006563.4:c.72G>T | NP_006554.1:p.Gln24His | |
| XM_011527642.2:c.-132G>T | XP_011525944.1:n.-132G>T | |
| NM_006563.5:c.72G>T MANE Select | NP_006554.1:p.Gln24His |