Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736228G>A , CM000685.2:g.153736228G>A | GRCh38 |
| NC_000023.10:g.153001682G>A , CM000685.1:g.153001682G>A | GRCh37 |
| NC_000023.9:g.152654876G>A | NCBI36 |
| NG_009022.2:g.16361G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1198G>A MANE Select | ENSP00000218104.3:p.Glu400Lys | |
| ENST00000218104.5:c.1198G>A | ENSP00000218104.3:p.Glu400Lys | |
| ENST00000443684.2:n.201G>A | ||
| NM_000033.3:c.1198G>A | NP_000024.2:p.Glu400Lys | |
| XR_938507.1:n.1614G>A | ||
| XR_938507.2:n.1614G>A | ||
| NM_000033.4:c.1198G>A MANE Select | NP_000024.2:p.Glu400Lys |