Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160128771C= , CM000663.2:g.160128771C= | GRCh38 |
| NC_000001.10:g.160098561C= , CM000663.1:g.160098561C= | GRCh37 |
| NC_000001.9:g.158365185C= | NCBI36 |
| NG_008014.1:g.18014C= , LRG_6:g.18014C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361216.8:c.1137C= MANE Select | ENSP00000354490.3:p.Leu379= | |
| ENST00000361216.7:c.1137C= | ENSP00000354490.3:p.Leu379= | |
| ENST00000392233.7:c.1137C= | ENSP00000376066.3:p.Leu379= | |
| ENST00000447527.1:c.269C= | ||
| ENST00000472488.5:n.1240C= | ||
| NM_000702.3:c.1137C= | NP_000693.1:p.Leu379= | |
| NM_000702.4:c.1137C= MANE Select | NP_000693.1:p.Leu379= |