Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.15548494C>A , CM000672.2:g.15548494C>A | GRCh38 |
| NC_000010.10:g.15590493C>A , CM000672.1:g.15590493C>A | GRCh37 |
| NC_000010.9:g.15630499C>A | NCBI36 |
| NG_034116.1:g.176842G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378076.4:c.2841G>T MANE Select | ENSP00000367316.3:p.Leu947= | |
| ENST00000378076.3:c.2841G>T | ENSP00000367316.3:p.Leu947= | |
| NM_001291494.1:c.2796G>T | NP_001278423.1:p.Leu932= | |
| NM_003638.2:c.2841G>T | NP_003629.2:p.Leu947= | |
| NM_003638.3:c.2841G>T MANE Select | NP_003629.2:p.Leu947= | |
| NM_001291494.2:c.2796G>T | NP_001278423.1:p.Leu932= |