Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20870352C>T , CM000684.2:g.20870352C>T | GRCh38 |
| NC_000022.10:g.21224640C>T , CM000684.1:g.21224640C>T | GRCh37 |
| NC_000022.9:g.19554640C>T | NCBI36 |
| NG_012152.1:g.16349C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004782.4:c.253C>T MANE Select | NP_004773.1:p.Arg85Ter |
| ENST00000215730.12:c.253C>T MANE Select | ENSP00000215730.6:p.Arg85Ter |
| NM_004782.3:c.253C>T | NP_004773.1:p.Arg85Ter |
| ENST00000215730.11:c.253C>T | ENSP00000215730.6:p.Arg85Ter |
| ENST00000439214.1:c.-27C>T | ENSP00000411095.1:n.-27C>T |
| ENST00000490458.1:n.283C>T |