Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102699426G>A , CM000672.2:g.102699426G>A | GRCh38 |
| NC_000010.10:g.104459183G>A , CM000672.1:g.104459183G>A | GRCh37 |
| NC_000010.9:g.104449173G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260746.6:c.211C>T MANE Select | ENSP00000260746.4:p.Gln71Ter | |
| ENST00000260746.5:c.211C>T | ENSP00000260746.4:p.Gln71Ter | |
| NM_004311.3:c.211C>T | NP_004302.1:p.Gln71Ter | |
| XM_017016260.1:c.211C>T | XP_016871749.1:p.Gln71Ter | |
| NM_004311.4:c.211C>T MANE Select | NP_004302.1:p.Gln71Ter |