Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43776230C= , CM000683.2:g.43776230C= | GRCh38 |
| NC_000021.8:g.45196111C= , CM000683.1:g.45196111C= | GRCh37 |
| NC_000021.7:g.44020539C= | NCBI36 |
| NG_011545.1:g.5149G= , LRG_485:g.5149G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.40G= MANE Select | ENSP00000291568.6:p.Ala14= | |
| ENST00000480147.3:n.39G= | ||
| ENST00000639959.1:c.9G= | ||
| ENST00000640406.1:c.40G= | ENSP00000492672.1:p.Ala14= | |
| ENST00000675996.1:n.101G= | ||
| ENST00000291568.5:c.40G= | ENSP00000291568.5:p.Ala14= | |
| ENST00000480147.1:n.77G= | ||
| NM_000100.3:c.40G= , LRG_485t1:c.40G= | NP_000091.1:p.Ala14= | |
| NM_000100.4:c.40G= MANE Select | NP_000091.1:p.Ala14= |