Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786087T>G , CM000681.2:g.18786087T>G | GRCh38 |
| NC_000019.9:g.18896897T>G , CM000681.1:g.18896897T>G | GRCh37 |
| NC_000019.8:g.18757897T>G | NCBI36 |
| NG_007070.1:g.10218A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1367A>C MANE Select | ENSP00000222271.2:p.Gln456Pro | |
| ENST00000222271.6:c.1367A>C | ENSP00000222271.2:p.Gln456Pro | |
| ENST00000425807.1:c.1208A>C | ENSP00000403792.1:p.Gln403Pro | |
| ENST00000542601.6:c.1268A>C | ENSP00000439156.2:p.Gln423Pro | |
| NM_000095.2:c.1367A>C | NP_000086.2:p.Gln456Pro | |
| NM_000095.3:c.1367A>C MANE Select | NP_000086.2:p.Gln456Pro |