Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110835910G>A , CM000672.2:g.110835910G>A | GRCh38 |
| NC_000010.10:g.112595668G>A , CM000672.1:g.112595668G>A | GRCh37 |
| NC_000010.9:g.112585658G>A | NCBI36 |
| NG_021177.1:g.196514G>A , LRG_382:g.196514G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.3616G>A MANE Select | ENSP00000358532.3:p.Glu1206Lys | |
| ENST00000369519.3:c.3616G>A | ENSP00000358532.3:p.Glu1206Lys | |
| ENST00000465774.2:n.557G>A | ||
| ENST00000480343.2:n.249G>A | ||
| NM_001134363.2:c.3616G>A | NP_001127835.2:p.Glu1206Lys | |
| XM_011539697.1:c.3232G>A | XP_011537999.1:p.Glu1078Lys | |
| XM_017016103.2:c.3451G>A | XP_016871592.1:p.Glu1151Lys | |
| XM_017016104.2:c.3232G>A | XP_016871593.1:p.Glu1078Lys | |
| NM_001134363.3:c.3616G>A MANE Select | NP_001127835.2:p.Glu1206Lys |