Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225547T>G , CM000668.2:g.3225547T>G | GRCh38 |
| NC_000006.11:g.3225781T>G , CM000668.1:g.3225781T>G | GRCh37 |
| NC_000006.10:g.3170780T>G | NCBI36 |
| NG_016715.1:g.7188A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.542A>C MANE Select | ENSP00000259818.6:p.Glu181Ala | |
| ENST00000680070.1:n.1472A>C | ||
| ENST00000681707.1:n.1369A>C | ||
| ENST00000681757.1:n.847A>C | ||
| ENST00000259818.7:c.542A>C | ENSP00000259818.6:p.Glu181Ala | |
| ENST00000473006.1:n.659A>C | ||
| NM_178012.4:c.542A>C | NP_821080.1:p.Glu181Ala | |
| XM_011514571.1:c.326A>C | XP_011512873.1:p.Glu109Ala | |
| NM_178012.5:c.542A>C MANE Select | NP_821080.1:p.Glu181Ala |