Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.59213338C>T , CM000679.2:g.59213338C>T | GRCh38 |
| NC_000017.10:g.57290699C>T , CM000679.1:g.57290699C>T | GRCh37 |
| NC_000017.9:g.54645481C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300917.10:c.2515C>T MANE Select | ENSP00000300917.4:p.Arg839Ter | |
| ENST00000300917.9:c.2515C>T | ENSP00000300917.4:p.Arg839Ter | |
| ENST00000543872.6:c.2515C>T | ENSP00000438748.2:p.Arg839Ter | |
| ENST00000577660.1:c.136-1467C>T | ENSP00000464167.1:n.136-1467C>T | |
| ENST00000582469.1:c.748+396C>T | ENSP00000462931.1:n.748+396C>T | |
| NM_018149.6:c.2515C>T | NP_060619.4:p.Arg839Ter | |
| NM_018149.7:c.2515C>T MANE Select | NP_060619.4:p.Arg839Ter |