Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134408214C>T , CM000671.2:g.134408214C>T | GRCh38 |
| NC_000009.11:g.137300060C>T , CM000671.1:g.137300060C>T | GRCh37 |
| NC_000009.10:g.136439881C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.345C>T MANE Select | ENSP00000419692.1:p.Gly115= | |
| ENST00000672570.1:c.264C>T | ENSP00000500402.1:p.Gly88= | |
| ENST00000356384.4:n.755C>T | ||
| ENST00000481739.1:c.345C>T | ENSP00000419692.1:p.Gly115= | |
| NM_001291920.1:c.264C>T | NP_001278849.1:p.Gly88= | |
| NM_001291921.1:c.54C>T | NP_001278850.1:p.Gly18= | |
| NM_002957.5:c.345C>T | NP_002948.1:p.Gly115= | |
| NM_002957.6:c.345C>T MANE Select | NP_002948.1:p.Gly115= | |
| NM_001291921.2:c.54C>T | NP_001278850.1:p.Gly18= | |
| NM_001291920.2:c.264C>T | NP_001278849.1:p.Gly88= |