Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31536265G= , CM000680.2:g.31536265G= | GRCh38 |
| NC_000018.9:g.29116228G= , CM000680.1:g.29116228G= | GRCh37 |
| NC_000018.8:g.27370226G= | NCBI36 |
| NG_007072.3:g.43024G= , LRG_397:g.43024G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.1487G= MANE Select | NP_001934.2:p.Cys496= |
| ENST00000261590.13:c.1487G= MANE Select | ENSP00000261590.8:p.Cys496= |
| NM_001943.3:c.1487G= , LRG_397t1:c.1487G= | NP_001934.2:p.Cys496= |
| NM_001943.4:c.1487G= | NP_001934.2:p.Cys496= |
| ENST00000261590.12:c.1487G= | ENSP00000261590.8:p.Cys496= |
| XM_024451095.1:c.953G= | XP_024306863.1:p.Cys318= |