Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142741145A>T , CM000670.2:g.142741145A>T | GRCh38 |
| NC_000008.10:g.143822563A>T , CM000670.1:g.143822563A>T | GRCh37 |
| NC_000008.9:g.143819565A>T | NCBI36 |
| NG_011494.1:g.6267T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246515.2:c.310T>A MANE Select | ENSP00000246515.1:p.Ter104Arg | |
| ENST00000246515.1:c.310T>A | ENSP00000246515.1:p.Ter104Arg | |
| NM_020427.2:c.310T>A | NP_065160.1:p.Ter104Arg | |
| NM_020427.3:c.310T>A MANE Select | NP_065160.1:p.Ter104Arg |