Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541217G= , CM000680.2:g.31541217G= | GRCh38 |
| NC_000018.9:g.29121180G= , CM000680.1:g.29121180G= | GRCh37 |
| NC_000018.8:g.27375178G= | NCBI36 |
| NG_007072.3:g.47976G= , LRG_397:g.47976G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1904G= MANE Select | ENSP00000261590.8:p.Cys635= | |
| ENST00000261590.12:c.1904G= | ENSP00000261590.8:p.Cys635= | |
| NM_001943.3:c.1904G= , LRG_397t1:c.1904G= | NP_001934.2:p.Cys635= | |
| NM_001943.4:c.1904G= | NP_001934.2:p.Cys635= | |
| XM_024451095.1:c.1370G= | XP_024306863.1:p.Cys457= | |
| NM_001943.5:c.1904G= MANE Select | NP_001934.2:p.Cys635= |