Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192630G>T , CM000685.2:g.50192630G>T | GRCh38 |
| NC_000023.10:g.49957281G>T , CM000685.1:g.49957281G>T | GRCh37 |
| NC_000023.9:g.49844021G>T | NCBI36 |
| NG_012552.1:g.13384C>A | |
| NG_012552.2:g.13384C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.2083C>A MANE Select | ENSP00000351327.2:p.Gln695Lys | |
| ENST00000358526.6:c.2083C>A | ENSP00000351327.2:p.Gln695Lys | |
| ENST00000376064.7:c.2056C>A | ENSP00000365232.3:p.Gln686Lys | |
| ENST00000481402.5:n.2195C>A | ||
| NM_003886.2:c.2083C>A | NP_003877.2:p.Gln695Lys | |
| NM_139289.1:c.2056C>A | NP_647450.1:p.Gln686Lys | |
| NM_003886.3:c.2083C>A MANE Select | NP_003877.2:p.Gln695Lys | |
| NM_139289.2:c.2056C>A | NP_647450.1:p.Gln686Lys |