Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134475189G>A , CM000685.2:g.134475189G>A | GRCh38 |
| NC_000023.10:g.133609219G>A , CM000685.1:g.133609219G>A | GRCh37 |
| NC_000023.9:g.133436885G>A | NCBI36 |
| NG_012329.1:g.20045G>A | |
| NG_012329.2:g.20045G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.143G>A MANE Select | ENSP00000298556.7:p.Arg48His | |
| ENST00000298556.7:c.143G>A | ENSP00000298556.7:p.Arg48His | |
| ENST00000462974.5:n.301G>A | ||
| ENST00000475720.1:n.101G>A | ||
| NM_000194.2:c.143G>A | NP_000185.1:p.Arg48His | |
| XM_011531328.1:c.161G>A | XP_011529630.1:p.Arg54His | |
| NM_000194.3:c.143G>A MANE Select | NP_000185.1:p.Arg48His |