Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20883536C>T , CM000684.2:g.20883536C>T | GRCh38 |
| NC_000022.10:g.21237824C>T , CM000684.1:g.21237824C>T | GRCh37 |
| NC_000022.9:g.19567824C>T | NCBI36 |
| NG_012152.1:g.29533C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004782.4:c.586C>T MANE Select | NP_004773.1:p.Arg196Ter |
| ENST00000215730.12:c.586C>T MANE Select | ENSP00000215730.6:p.Arg196Ter |
| NM_004782.3:c.586C>T | NP_004773.1:p.Arg196Ter |
| ENST00000215730.11:c.586C>T | ENSP00000215730.6:p.Arg196Ter |
| ENST00000439214.1:c.307C>T | ENSP00000411095.1:p.Arg103Ter |