Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132456382G>A , CM000665.2:g.132456382G>A | GRCh38 |
| NC_000003.11:g.132175226G>A , CM000665.1:g.132175226G>A | GRCh37 |
| NC_000003.10:g.133657916G>A | NCBI36 |
| NG_051045.1:g.43856G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015268.4:c.1080G>A MANE Select | NP_056083.3:p.Arg360= |
| ENST00000260818.11:c.1080G>A MANE Select | ENSP00000260818.6:p.Arg360= |
| NM_001329126.1:c.1080G>A | NP_001316055.1:p.Arg360= |
| NM_001329126.2:c.1080G>A | NP_001316055.1:p.Arg360= |
| NM_015268.3:c.1080G>A | NP_056083.3:p.Arg360= |
| ENST00000260818.10:c.1080G>A | ENSP00000260818.6:p.Arg360= |
| ENST00000471925.1:n.89G>A | |
| ENST00000486798.5:n.1145G>A | |
| ENST00000650455.1:c.1080G>A | ENSP00000496825.1:p.Arg360= |
| XM_005247245.3:c.1080G>A | XP_005247302.1:p.Arg360= |