Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.56027600G>A , CM000681.2:g.56027600G>A | GRCh38 |
| NC_000019.9:g.56538966G>A , CM000681.1:g.56538966G>A | GRCh37 |
| NC_000019.8:g.61230778G>A | NCBI36 |
| NG_046924.1:g.45818G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153447.4:c.1367G>A MANE Select | NP_703148.4:p.Arg456His |
| ENST00000390649.8:c.1367G>A MANE Select | ENSP00000375063.3:p.Arg456His |
| ENST00000390649.7:c.1367G>A | ENSP00000375063.3:p.Arg456His |
| ENST00000621651.4:c.1367G>A | ENSP00000481137.1:p.Arg456His |
| XM_011526444.1:c.1214G>A | XP_011524746.1:p.Arg405His |