Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922719C>T , CM000676.2:g.102922719C>T | GRCh38 |
| NC_000014.8:g.103389056C>T , CM000676.1:g.103389056C>T | GRCh37 |
| NC_000014.7:g.102458809C>T | NCBI36 |
| NG_008276.2:g.5064C>T , LRG_642:g.5064C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.31C>T MANE Select | ENSP00000299155.6:p.Leu11= | |
| ENST00000299155.9:c.31C>T | ENSP00000299155.5:p.Leu11= | |
| NM_030943.3:c.31C>T , LRG_642t1:c.31C>T | NP_112205.2:p.Leu11= | |
| XM_011537202.1:c.-151C>T | XP_011535504.1:n.-151C>T | |
| XM_011537202.3:c.-151C>T | XP_011535504.1:n.-151C>T | |
| XM_024449714.1:c.127C>T | XP_024305482.1:p.Leu43= | |
| NM_030943.4:c.31C>T MANE Select | NP_112205.2:p.Leu11= |