Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853651T>C , CM000685.2:g.46853651T>C | GRCh38 |
| NC_000023.10:g.46713086T>C , CM000685.1:g.46713086T>C | GRCh37 |
| NC_000023.9:g.46598030T>C | NCBI36 |
| NG_009107.1:g.21740T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.278T>C MANE Select | ENSP00000218340.3:p.Leu93Pro | |
| ENST00000218340.3:c.278T>C | ENSP00000218340.3:p.Leu93Pro | |
| NM_006915.2:c.278T>C | NP_008846.2:p.Leu93Pro | |
| NM_006915.3:c.278T>C MANE Select | NP_008846.2:p.Leu93Pro |