Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787586G= , CM000681.2:g.18787586G= | GRCh38 |
| NC_000019.9:g.18898395G= , CM000681.1:g.18898395G= | GRCh37 |
| NC_000019.8:g.18759395G= | NCBI36 |
| NG_007070.1:g.8720C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1040C= MANE Select | ENSP00000222271.2:p.Ala347= | |
| ENST00000222271.6:c.1040C= | ENSP00000222271.2:p.Ala347= | |
| ENST00000425807.1:c.881C= | ENSP00000403792.1:p.Ala294= | |
| ENST00000542601.6:c.941C= | ENSP00000439156.2:p.Ala314= | |
| NM_000095.2:c.1040C= | NP_000086.2:p.Ala347= | |
| NM_000095.3:c.1040C= MANE Select | NP_000086.2:p.Ala347= |