Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23808159C= , CM000663.2:g.23808159C= | GRCh38 |
| NC_000001.10:g.24134649C= , CM000663.1:g.24134649C= | GRCh37 |
| NC_000001.9:g.24007236C= | NCBI36 |
| NG_013061.1:g.22301G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.726G= MANE Select | ENSP00000363614.3:p.Leu242= | |
| ENST00000235958.4:c.296G= | ||
| ENST00000374487.6:c.*767G= | ENSP00000363611.2:n.*767G= | |
| ENST00000374490.7:c.726G= | ENSP00000363614.3:p.Leu242= | |
| ENST00000436439.6:c.513G= | ENSP00000389281.2:p.Leu171= | |
| ENST00000496907.1:n.361G= | ||
| ENST00000509389.5:n.417G= | ||
| NM_000191.2:c.726G= | NP_000182.2:p.Leu242= | |
| NM_001166059.1:c.513G= | NP_001159531.1:p.Leu171= | |
| NM_000191.3:c.726G= MANE Select | NP_000182.2:p.Leu242= | |
| NM_001166059.2:c.513G= | NP_001159531.1:p.Leu171= |