Linked Data
dbSNP Id:
rs1252266807
gnomAD v2:
19-48923067-G-A
gnomAD v3:
19-48419810-G-A
gnomAD v4:
19-48419810-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48419810G>A , CM000681.2:g.48419810G>A | GRCh38 |
| NC_000019.9:g.48923067G>A , CM000681.1:g.48923067G>A | GRCh37 |
| NC_000019.8:g.53614879G>A | NCBI36 |
| NG_052829.1:g.29936G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263269.4:c.2087G>A MANE Select | ENSP00000263269.2:p.Arg696His | |
| ENST00000263269.3:c.2087G>A | ENSP00000263269.2:p.Arg696His | |
| NM_000836.2:c.2087G>A | NP_000827.2:p.Arg696His | |
| XM_011526872.1:c.2087G>A | XP_011525174.1:p.Arg696His | |
| NM_000836.4:c.2087G>A MANE Select | NP_000827.2:p.Arg696His |