Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154610A>G , CM000668.2:g.3154610A>G | GRCh38 |
| NC_000006.11:g.3154844A>G , CM000668.1:g.3154844A>G | GRCh37 |
| NC_000006.10:g.3099843A>G | NCBI36 |
| NG_042223.1:g.7940T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.591T>C MANE Select | ENSP00000369703.2:p.Asp197= | |
| ENST00000679400.1:n.647T>C | ||
| ENST00000679907.1:n.979T>C | ||
| ENST00000680036.1:n.1373T>C | ||
| ENST00000680967.1:n.1681T>C | ||
| ENST00000333628.3:c.591T>C | ENSP00000369703.2:p.Asp197= | |
| ENST00000489942.1:n.786T>C | ||
| NM_001069.2:c.591T>C | NP_001060.1:p.Asp197= | |
| NM_001310315.1:c.336T>C | NP_001297244.1:p.Asp112= | |
| NM_001069.3:c.591T>C MANE Select | NP_001060.1:p.Asp197= | |
| NM_001310315.2:c.336T>C | NP_001297244.1:p.Asp112= |