Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119402282A= , CM000665.2:g.119402282A= | GRCh38 |
| NC_000003.11:g.119121129A= , CM000665.1:g.119121129A= | GRCh37 |
| NC_000003.10:g.120603819A= | NCBI36 |
| NG_007665.2:g.112910A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.1530A= MANE Select | ENSP00000264245.4:p.Arg510= | |
| ENST00000264245.8:c.1530A= | ENSP00000264245.4:p.Arg510= | |
| NM_020754.3:c.1530A= | NP_065805.2:p.Arg510= | |
| XM_005247671.3:c.1437A= | XP_005247728.1:p.Arg479= | |
| XM_006713714.2:c.1470A= | XP_006713777.1:p.Arg490= | |
| XM_006713714.3:c.1470A= | XP_006713777.1:p.Arg490= | |
| XM_017006955.1:c.1038A= | XP_016862444.1:p.Arg346= | |
| NM_020754.4:c.1530A= MANE Select | NP_065805.2:p.Arg510= |