Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55220373G>T , CM000667.2:g.55220373G>T | GRCh38 |
| NC_000005.9:g.54516201G>T , CM000667.1:g.54516201G>T | GRCh37 |
| NC_000005.8:g.54551958G>T | NCBI36 |
| NG_051620.1:g.11943C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001190787.3:c.1151C>A MANE Select | NP_001177716.1:p.Pro384His |
| ENST00000513312.3:c.1151C>A MANE Select | ENSP00000426359.1:p.Pro384His |
| NM_001190787.1:c.1151C>A | NP_001177716.1:p.Pro384His |
| ENST00000513312.1:c.1151C>A | ENSP00000426359.1:p.Pro384His |
| ENST00000513468.5:c.*615C>A | ENSP00000422165.1:n.*615C>A |
| XM_017009439.2:c.758C>A | XP_016864928.1:p.Pro253His |