Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150297297G>A , CM000667.2:g.150297297G>A | GRCh38 |
| NC_000005.9:g.149676860G>A , CM000667.1:g.149676860G>A | GRCh37 |
| NC_000005.8:g.149657053G>A | NCBI36 |
| NG_051250.1:g.10666C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001012301.4:c.1627C>T MANE Select | NP_001012301.1:p.Arg543Cys |
| ENST00000328668.8:c.1627C>T MANE Select | ENSP00000333395.7:p.Arg543Cys |
| NM_001012301.2:c.1627C>T | NP_001012301.1:p.Arg543Cys |
| NM_001012301.3:c.1627C>T | NP_001012301.1:p.Arg543Cys |
| ENST00000328668.7:c.1627C>T | ENSP00000333395.7:p.Arg543Cys |
| ENST00000515301.2:c.1198C>T | ENSP00000426879.2:p.Arg400Cys |