Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18784931A= , CM000681.2:g.18784931A= | GRCh38 |
| NC_000019.9:g.18895741A= , CM000681.1:g.18895741A= | GRCh37 |
| NC_000019.8:g.18756741A= | NCBI36 |
| NG_007070.1:g.11374T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1879T= MANE Select | ENSP00000222271.2:p.Phe627= | |
| ENST00000222271.6:c.1879T= | ENSP00000222271.2:p.Phe627= | |
| ENST00000425807.1:c.1720T= | ENSP00000403792.1:p.Phe574= | |
| ENST00000542601.6:c.1780T= | ENSP00000439156.2:p.Phe594= | |
| NM_000095.2:c.1879T= | NP_000086.2:p.Phe627= | |
| NM_000095.3:c.1879T= MANE Select | NP_000086.2:p.Phe627= |