Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954218A>T , CM000670.2:g.19954218A>T | GRCh38 |
| NC_000008.10:g.19811729A>T , CM000670.1:g.19811729A>T | GRCh37 |
| NC_000008.9:g.19856009A>T | NCBI36 |
| NG_008855.1:g.20148A>T | |
| NG_008855.2:g.57502A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.640A>T MANE Select | ENSP00000497642.1:p.Arg214Ter | |
| ENST00000311322.8:c.640A>T | ENSP00000309757.6:p.Arg214Ter | |
| NM_000237.2:c.640A>T | NP_000228.1:p.Arg214Ter | |
| NM_000237.3:c.640A>T MANE Select | NP_000228.1:p.Arg214Ter |