Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24301764G>A , CM000668.2:g.24301764G>A | GRCh38 |
| NC_000006.11:g.24301992G>A , CM000668.1:g.24301992G>A | GRCh37 |
| NC_000006.10:g.24409971G>A | NCBI36 |
| NG_012829.1:g.61289C>T | |
| NG_012829.2:g.86529C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.508C>T MANE Select | ENSP00000367715.3:p.Leu170= | |
| ENST00000378454.7:c.508C>T | ENSP00000367715.3:p.Leu170= | |
| NM_001195610.1:c.508C>T | NP_001182539.1:p.Leu170= | |
| NM_016356.4:c.508C>T | NP_057440.2:p.Leu170= | |
| NM_016356.5:c.508C>T MANE Select | NP_057440.2:p.Leu170= | |
| NM_001195610.2:c.508C>T | NP_001182539.1:p.Leu170= |