Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785969C>G , CM000681.2:g.18785969C>G | GRCh38 |
| NC_000019.9:g.18896779C>G , CM000681.1:g.18896779C>G | GRCh37 |
| NC_000019.8:g.18757779C>G | NCBI36 |
| NG_007070.1:g.10336G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1485G>C MANE Select | ENSP00000222271.2:p.Ala495= | |
| ENST00000222271.6:c.1485G>C | ENSP00000222271.2:p.Ala495= | |
| ENST00000425807.1:c.1326G>C | ENSP00000403792.1:p.Ala442= | |
| ENST00000542601.6:c.1386G>C | ENSP00000439156.2:p.Ala462= | |
| NM_000095.2:c.1485G>C | NP_000086.2:p.Ala495= | |
| NM_000095.3:c.1485G>C MANE Select | NP_000086.2:p.Ala495= |