Linked Data
dbSNP Id:
rs764425153
ExAC:
19:35775911 A / G
gnomAD v2:
19-35775911-A-G
gnomAD v4:
19-35285008-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35285008A>G , CM000681.2:g.35285008A>G | GRCh38 |
| NC_000019.9:g.35775911A>G , CM000681.1:g.35775911A>G | GRCh37 |
| NC_000019.8:g.40467751A>G | NCBI36 |
| NG_011563.1:g.7502A>G | |
| NG_011563.2:g.7502A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222304.5:c.221A>G MANE Select | ENSP00000222304.2:p.His74Arg | |
| ENST00000222304.3:c.221A>G | ENSP00000222304.2:p.His74Arg | |
| ENST00000593580.1:n.2492A>G | ||
| ENST00000598398.5:c.221A>G | ENSP00000471894.1:p.His74Arg | |
| NM_021175.2:c.221A>G | NP_066998.1:p.His74Arg | |
| NM_021175.3:c.221A>G | NP_066998.1:p.His74Arg | |
| NM_021175.4:c.221A>G MANE Select | NP_066998.1:p.His74Arg |