Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785056G>C , CM000681.2:g.18785056G>C | GRCh38 |
| NC_000019.9:g.18895866G>C , CM000681.1:g.18895866G>C | GRCh37 |
| NC_000019.8:g.18756866G>C | NCBI36 |
| NG_007070.1:g.11249C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1754C>G MANE Select | ENSP00000222271.2:p.Thr585Arg | |
| ENST00000222271.6:c.1754C>G | ENSP00000222271.2:p.Thr585Arg | |
| ENST00000425807.1:c.1595C>G | ENSP00000403792.1:p.Thr532Arg | |
| ENST00000542601.6:c.1655C>G | ENSP00000439156.2:p.Thr552Arg | |
| NM_000095.2:c.1754C>G | NP_000086.2:p.Thr585Arg | |
| NM_000095.3:c.1754C>G MANE Select | NP_000086.2:p.Thr585Arg |