Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.21701276G>A , CM000675.2:g.21701276G>A | GRCh38 |
| NC_000013.10:g.22275415G>A , CM000675.1:g.22275415G>A | GRCh37 |
| NC_000013.9:g.21173415G>A | NCBI36 |
| NG_016272.1:g.35201G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382353.6:c.468G>A MANE Select | ENSP00000371790.5:p.Val156= | |
| ENST00000382353.5:c.468G>A | ENSP00000371790.5:p.Val156= | |
| ENST00000461657.1:n.402G>A | ||
| ENST00000478546.1:n.228G>A | ||
| NM_002010.2:c.468G>A | NP_002001.1:p.Val156= | |
| XM_011534996.1:c.318G>A | XP_011533298.1:p.Val106= | |
| XM_011534996.2:c.318G>A | XP_011533298.1:p.Val106= | |
| NM_002010.3:c.468G>A MANE Select | NP_002001.1:p.Val156= |