Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121846913C>A , CM000674.2:g.121846913C>A | GRCh38 |
| NC_000012.11:g.122284819C>A , CM000674.1:g.122284819C>A | GRCh37 |
| NC_000012.10:g.120769202C>A | NCBI36 |
| NG_016461.1:g.46699G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.780G>T MANE Select | ENSP00000289004.4:p.Gly260= | |
| ENST00000543163.5:c.663G>T | ENSP00000441677.1:p.Gly221= | |
| NM_001171993.1:c.663G>T | NP_001165464.1:p.Gly221= | |
| NM_002150.2:c.780G>T | NP_002141.1:p.Gly260= | |
| NM_002150.3:c.780G>T MANE Select | NP_002141.2:p.Gly260= | |
| NM_001171993.2:c.663G>T | NP_001165464.1:p.Gly221= |