Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154906468C>G , CM000685.2:g.154906468C>G | GRCh38 |
| NC_000023.10:g.154134743C>G , CM000685.1:g.154134743C>G | GRCh37 |
| NC_000023.9:g.153787937C>G | NCBI36 |
| NG_011403.1:g.121256G>C | |
| NG_011403.2:g.121256G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5325G>C MANE Select | ENSP00000353393.4:p.Leu1775Phe | |
| ENST00000360256.8:c.5325G>C | ENSP00000353393.4:p.Leu1775Phe | |
| NM_000132.3:c.5325G>C | NP_000123.1:p.Leu1775Phe | |
| XM_011531126.1:c.5220G>C | XP_011529428.1:p.Leu1740Phe | |
| NM_000132.4:c.5325G>C MANE Select | NP_000123.1:p.Leu1775Phe |