Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154844C>G , CM000668.2:g.3154844C>G | GRCh38 |
| NC_000006.11:g.3155078C>G , CM000668.1:g.3155078C>G | GRCh37 |
| NC_000006.10:g.3100077C>G | NCBI36 |
| NG_042223.1:g.7706G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.357G>C MANE Select | ENSP00000369703.2:p.Val119= | |
| ENST00000679400.1:n.413G>C | ||
| ENST00000679907.1:n.745G>C | ||
| ENST00000680036.1:n.1139G>C | ||
| ENST00000680967.1:n.1447G>C | ||
| ENST00000333628.3:c.357G>C | ENSP00000369703.2:p.Val119= | |
| ENST00000489942.1:n.552G>C | ||
| NM_001069.2:c.357G>C | NP_001060.1:p.Val119= | |
| NM_001310315.1:c.102G>C | NP_001297244.1:p.Val34= | |
| NM_001069.3:c.357G>C MANE Select | NP_001060.1:p.Val119= | |
| NM_001310315.2:c.102G>C | NP_001297244.1:p.Val34= |