Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.3310622G>C , CM000685.2:g.3310622G>C | GRCh38 |
| NC_000023.10:g.3228663G>C , CM000685.1:g.3228663G>C | GRCh37 |
| NC_000023.9:g.3238663G>C | NCBI36 |
| NG_021336.1:g.41022C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217939.7:c.7581C>G MANE Select | ENSP00000217939.5:p.Ala2527= | |
| ENST00000217939.6:c.7581C>G | ENSP00000217939.5:p.Ala2527= | |
| NM_015419.3:c.7581C>G | NP_056234.2:p.Ala2527= | |
| XM_005274485.1:c.7656C>G | XP_005274542.1:p.Ala2552= | |
| NM_015419.4:c.7581C>G MANE Select | NP_056234.2:p.Ala2527= |