Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787570C>T , CM000681.2:g.18787570C>T | GRCh38 |
| NC_000019.9:g.18898379C>T , CM000681.1:g.18898379C>T | GRCh37 |
| NC_000019.8:g.18759379C>T | NCBI36 |
| NG_007070.1:g.8736G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1056G>A MANE Select | ENSP00000222271.2:p.Arg352= | |
| ENST00000222271.6:c.1056G>A | ENSP00000222271.2:p.Arg352= | |
| ENST00000425807.1:c.897G>A | ENSP00000403792.1:p.Arg299= | |
| ENST00000542601.6:c.957G>A | ENSP00000439156.2:p.Arg319= | |
| NM_000095.2:c.1056G>A | NP_000086.2:p.Arg352= | |
| NM_000095.3:c.1056G>A MANE Select | NP_000086.2:p.Arg352= |