Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786586G>A , CM000681.2:g.18786586G>A | GRCh38 |
| NC_000019.9:g.18897396G>A , CM000681.1:g.18897396G>A | GRCh37 |
| NC_000019.8:g.18758396G>A | NCBI36 |
| NG_007070.1:g.9719C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.1200C>T MANE Select | NP_000086.2:p.Gly400= |
| ENST00000222271.7:c.1200C>T MANE Select | ENSP00000222271.2:p.Gly400= |
| NM_000095.2:c.1200C>T | NP_000086.2:p.Gly400= |
| ENST00000222271.6:c.1200C>T | ENSP00000222271.2:p.Gly400= |
| ENST00000425807.1:c.1041C>T | ENSP00000403792.1:p.Gly347= |
| ENST00000542601.6:c.1101C>T | ENSP00000439156.2:p.Gly367= |
| ENST00000612179.1:n.450C>T |