Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53130893C>T , CM000668.2:g.53130893C>T | GRCh38 |
| NC_000006.11:g.52995691C>T , CM000668.1:g.52995691C>T | GRCh37 |
| NC_000006.10:g.53103650C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259803.8:c.480G>A MANE Select | ENSP00000259803.7:p.Lys160= | |
| ENST00000259803.7:c.480G>A | ENSP00000259803.7:p.Lys160= | |
| NM_003643.3:c.480G>A | NP_003634.2:p.Lys160= | |
| XM_017011390.2:c.666G>A | XP_016866879.1:p.Lys222= | |
| NM_003643.4:c.480G>A MANE Select | NP_003634.2:p.Lys160= |