Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787618C>T , CM000681.2:g.18787618C>T | GRCh38 |
| NC_000019.9:g.18898427C>T , CM000681.1:g.18898427C>T | GRCh37 |
| NC_000019.8:g.18759427C>T | NCBI36 |
| NG_007070.1:g.8688G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1008G>A MANE Select | ENSP00000222271.2:p.Gln336= | |
| ENST00000222271.6:c.1008G>A | ENSP00000222271.2:p.Gln336= | |
| ENST00000425807.1:c.849G>A | ENSP00000403792.1:p.Gln283= | |
| ENST00000542601.6:c.909G>A | ENSP00000439156.2:p.Gln303= | |
| NM_000095.2:c.1008G>A | NP_000086.2:p.Gln336= | |
| NM_000095.3:c.1008G>A MANE Select | NP_000086.2:p.Gln336= |