Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73407507T>C , CM000668.2:g.73407507T>C | GRCh38 |
| NC_000006.11:g.74117230T>C , CM000668.1:g.74117230T>C | GRCh37 |
| NC_000006.10:g.74173951T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370336.5:c.929T>C MANE Select | ENSP00000359361.4:p.Leu310Pro | |
| ENST00000370336.4:c.929T>C | ENSP00000359361.4:p.Leu310Pro | |
| ENST00000479773.1:n.47T>C | ||
| NM_018665.2:c.929T>C | NP_061135.2:p.Leu310Pro | |
| XM_011535926.1:c.797T>C | XP_011534228.1:p.Leu266Pro | |
| XM_011535927.1:c.572T>C | XP_011534229.1:p.Leu191Pro | |
| XM_011535928.1:c.572T>C | XP_011534230.1:p.Leu191Pro | |
| XM_011535929.1:c.302T>C | XP_011534231.1:p.Leu101Pro | |
| NM_018665.3:c.929T>C MANE Select | NP_061135.2:p.Leu310Pro |