Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5968165G>A , CM000674.2:g.5968165G>A | GRCh38 |
| NC_000012.11:g.6077331G>A , CM000674.1:g.6077331G>A | GRCh37 |
| NC_000012.10:g.5947592G>A | NCBI36 |
| NG_009072.1:g.161506C>T | |
| NG_009072.2:g.161506C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.7732C>T MANE Select | NP_000543.3:p.Arg2578Cys |
| ENST00000261405.10:c.7732C>T MANE Select | ENSP00000261405.5:p.Arg2578Cys |
| NM_000552.3:c.7732C>T | NP_000543.2:p.Arg2578Cys |
| NM_000552.4:c.7732C>T | NP_000543.2:p.Arg2578Cys |
| ENST00000261405.9:c.7732C>T | ENSP00000261405.5:p.Arg2578Cys |
| ENST00000621700.1:n.50C>T |