Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.61229163C>G , CM000677.2:g.61229163C>G | GRCh38 |
| NC_000015.9:g.61521362C>G , CM000677.1:g.61521362C>G | GRCh37 |
| NC_000015.8:g.59308654C>G | NCBI36 |
| NG_029246.1:g.5141G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.56G>C MANE Select | ENSP00000335087.6:p.Gly19Ala | |
| ENST00000335670.10:c.56G>C | ENSP00000335087.6:p.Gly19Ala | |
| ENST00000557822.5:n.81G>C | ||
| ENST00000559145.1:n.63G>C | ||
| ENST00000560300.1:n.71G>C | ||
| ENST00000561093.1:n.69G>C | ||
| NM_134261.2:c.56G>C | NP_599023.1:p.Gly19Ala | |
| NM_134261.3:c.56G>C MANE Select | NP_599023.1:p.Gly19Ala |