Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214369682G>A , CM000663.2:g.214369682G>A | GRCh38 |
| NC_000001.10:g.214543025G>A , CM000663.1:g.214543025G>A | GRCh37 |
| NC_000001.9:g.212609648G>A | NCBI36 |
| NG_028036.1:g.187000C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005401.5:c.3046C>T MANE Select | NP_005392.2:p.Arg1016Ter |
| ENST00000366956.10:c.3046C>T MANE Select | ENSP00000355923.4:p.Arg1016Ter |
| NM_005401.4:c.3046C>T | NP_005392.2:p.Arg1016Ter |
| ENST00000366956.9:c.3046C>T | ENSP00000355923.4:p.Arg1016Ter |
| ENST00000543945.5:c.*2322C>T | ENSP00000443330.1:n.*2322C>T |
| XM_017001941.1:c.3046C>T | XP_016857430.1:p.Arg1016Ter |
| XM_024448759.1:c.3046C>T | XP_024304527.1:p.Arg1016Ter |
| XR_247032.3:n.3620C>T |