Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778379T>C , CM000682.2:g.6778379T>C | GRCh38 |
| NC_000020.10:g.6759026T>C , CM000682.1:g.6759026T>C | GRCh37 |
| NC_000020.9:g.6707026T>C | NCBI36 |
| NG_023233.1:g.15282T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.481T>C MANE Select | ENSP00000368104.3:p.Leu161= | |
| ENST00000378827.4:c.481T>C | ENSP00000368104.3:p.Leu161= | |
| NM_001200.2:c.481T>C | NP_001191.1:p.Leu161= | |
| XM_011529323.1:c.13T>C | XP_011527625.1:p.Leu5= | |
| NM_001200.3:c.481T>C | NP_001191.1:p.Leu161= | |
| NM_001200.4:c.481T>C MANE Select | NP_001191.1:p.Leu161= |