Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787636C= , CM000681.2:g.18787636C= | GRCh38 |
| NC_000019.9:g.18898445C= , CM000681.1:g.18898445C= | GRCh37 |
| NC_000019.8:g.18759445C= | NCBI36 |
| NG_007070.1:g.8670G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.990G= MANE Select | ENSP00000222271.2:p.Leu330= | |
| ENST00000222271.6:c.990G= | ENSP00000222271.2:p.Leu330= | |
| ENST00000425807.1:c.831G= | ENSP00000403792.1:p.Leu277= | |
| ENST00000542601.6:c.891G= | ENSP00000439156.2:p.Leu297= | |
| NM_000095.2:c.990G= | NP_000086.2:p.Leu330= | |
| NM_000095.3:c.990G= MANE Select | NP_000086.2:p.Leu330= |