Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38074891G>C , CM000664.2:g.38074891G>C | GRCh38 |
| NC_000002.11:g.38302034G>C , CM000664.1:g.38302034G>C | GRCh37 |
| NC_000002.10:g.38155538G>C | NCBI36 |
| NG_008386.2:g.6211C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000104.4:c.498C>G MANE Select | NP_000095.2:p.Leu166= |
| ENST00000610745.5:c.498C>G MANE Select | ENSP00000478561.1:p.Leu166= |
| NM_000104.3:c.498C>G | NP_000095.2:p.Leu166= |
| ENST00000490576.2:c.498C>G | ENSP00000478839.2:p.Leu166= |
| ENST00000494864.1:c.-70-3581C>G | ENSP00000479876.1:n.-70-3581C>G |
| ENST00000610745.4:c.498C>G | ENSP00000478561.1:p.Leu166= |
| ENST00000613082.1:n.376-483C>G | |
| ENST00000614273.1:c.498C>G | ENSP00000483678.1:p.Leu166= |