Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152649295G>A , CM000669.2:g.152649295G>A | GRCh38 |
| NC_000007.13:g.152346380G>A , CM000669.1:g.152346380G>A | GRCh37 |
| NC_000007.12:g.151977313G>A | NCBI36 |
| NG_027988.1:g.31871C>T | |
| NG_027988.2:g.31871C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005431.2:c.190C>T MANE Select | NP_005422.1:p.Arg64Ter |
| ENST00000359321.2:c.190C>T MANE Select | ENSP00000352271.1:p.Arg64Ter |
| NM_005431.1:c.190C>T | NP_005422.1:p.Arg64Ter |
| ENST00000359321.1:c.190C>T | ENSP00000352271.1:p.Arg64Ter |
| ENST00000495707.1:n.212C>T | |
| ENST00000698506.1:c.22C>T | ENSP00000513758.1:p.Arg8Ter |