Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225342G>T , CM000668.2:g.3225342G>T | GRCh38 |
| NC_000006.11:g.3225576G>T , CM000668.1:g.3225576G>T | GRCh37 |
| NC_000006.10:g.3170575G>T | NCBI36 |
| NG_016715.1:g.7393C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.747C>A MANE Select | ENSP00000259818.6:p.Asp249Glu | |
| ENST00000680070.1:n.1677C>A | ||
| ENST00000681707.1:n.1574C>A | ||
| ENST00000681757.1:n.1052C>A | ||
| ENST00000259818.7:c.747C>A | ENSP00000259818.6:p.Asp249Glu | |
| ENST00000473006.1:n.864C>A | ||
| NM_178012.4:c.747C>A | NP_821080.1:p.Asp249Glu | |
| XM_011514571.1:c.531C>A | XP_011512873.1:p.Asp177Glu | |
| NM_178012.5:c.747C>A MANE Select | NP_821080.1:p.Asp249Glu |