Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119764567C>T , CM000663.2:g.119764567C>T | GRCh38 |
| NC_000001.10:g.120307190C>T , CM000663.1:g.120307190C>T | GRCh37 |
| NC_000001.9:g.120108713C>T | NCBI36 |
| NG_013348.1:g.9366G>A , LRG_447:g.9366G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005518.4:c.164G>A MANE Select | NP_005509.1:p.Gly55Asp |
| ENST00000369406.8:c.164G>A MANE Select | ENSP00000358414.3:p.Gly55Asp |
| NM_001166107.1:c.164G>A , LRG_447t2:c.164G>A | NP_001159579.1:p.Gly55Asp |
| NM_005518.3:c.164G>A , LRG_447t1:c.164G>A | NP_005509.1:p.Gly55Asp |
| ENST00000369406.7:c.164G>A | ENSP00000358414.3:p.Gly55Asp |
| ENST00000476640.1:n.60G>A | |
| ENST00000544913.2:c.164G>A | ENSP00000439495.2:p.Gly55Asp |
| XM_011541313.1:c.164G>A | XP_011539615.1:p.Gly55Asp |
| XM_011541313.2:c.164G>A | XP_011539615.1:p.Gly55Asp |