Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001279C>T , CM000683.2:g.46001279C>T | GRCh38 |
| NC_000021.8:g.47421193C>T , CM000683.1:g.47421193C>T | GRCh37 |
| NC_000021.7:g.46245621C>T | NCBI36 |
| NG_008674.1:g.24531C>T , LRG_475:g.24531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.248C>T | ||
| ENST00000361866.8:c.1849C>T MANE Select | ENSP00000355180.3:p.Leu617= | |
| ENST00000361866.7:c.1849C>T | ENSP00000355180.3:p.Leu617= | |
| ENST00000463060.5:n.248C>T | ||
| ENST00000498614.5:n.83C>T | ||
| ENST00000612273.1:c.1843C>T | ENSP00000483630.1:p.Leu615= | |
| NM_001848.2:c.1849C>T , LRG_475t1:c.1849C>T | NP_001839.2:p.Leu617= | |
| NM_001848.3:c.1849C>T MANE Select | NP_001839.2:p.Leu617= |