Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165419961C>G , CM000663.2:g.165419961C>G | GRCh38 |
| NC_000001.10:g.165389198C>G , CM000663.1:g.165389198C>G | GRCh37 |
| NC_000001.9:g.163655822C>G | NCBI36 |
| NG_029517.1:g.30395G>C | |
| NG_029517.2:g.30395G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359842.10:c.351G>C MANE Select | ENSP00000352900.5:p.Gly117= | |
| ENST00000359842.9:c.351G>C | ENSP00000352900.5:p.Gly117= | |
| ENST00000470566.1:n.276G>C | ||
| ENST00000619224.1:c.-19G>C | ENSP00000482458.1:n.-19G>C | |
| NM_001256570.1:c.-19G>C | NP_001243499.1:n.-19G>C | |
| NM_001256571.1:c.-19G>C | NP_001243500.1:n.-19G>C | |
| NM_006917.4:c.351G>C | NP_008848.1:p.Gly117= | |
| NM_006917.5:c.351G>C MANE Select | NP_008848.1:p.Gly117= | |
| NM_001256571.2:c.-19G>C | NP_001243500.1:n.-19G>C | |
| NM_001256570.2:c.-19G>C | NP_001243499.1:n.-19G>C |