Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78540725C>T , CM000666.2:g.78540725C>T | GRCh38 |
| NC_000004.11:g.79461879C>T , CM000666.1:g.79461879C>T | GRCh37 |
| NC_000004.10:g.79680903C>T | NCBI36 |
| NG_015812.1:g.488156C>T | |
| NG_015812.2:g.488156C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025074.7:c.11640C>T MANE Select | NP_079350.5:p.Gly3880= |
| ENST00000512123.4:c.11640C>T MANE Select | ENSP00000422834.2:p.Gly3880= |
| NM_025074.6:c.11640C>T | NP_079350.5:p.Gly3880= |
| ENST00000512123.3:c.11640C>T | ENSP00000422834.2:p.Gly3880= |
| XM_006714314.1:c.11634C>T | XP_006714377.1:p.Gly3878= |
| XM_006714316.1:c.11412C>T | XP_006714379.1:p.Gly3804= |
| XM_006714316.3:c.11412C>T | XP_006714379.1:p.Gly3804= |
| XM_011532270.1:c.9339C>T | XP_011530572.1:p.Gly3113= |
| XM_011532271.1:c.6528C>T | XP_011530573.1:p.Gly2176= |