Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74145258G>C , CM000664.2:g.74145258G>C | GRCh38 |
| NC_000002.11:g.74372385G>C , CM000664.1:g.74372385G>C | GRCh37 |
| NC_000002.10:g.74225893G>C | NCBI36 |
| NG_031910.1:g.7655C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327428.10:c.100C>G MANE Select | ENSP00000331369.5:p.Leu34Val | |
| ENST00000295326.4:c.100C>G | ENSP00000295326.4:p.Leu34Val | |
| ENST00000327428.9:c.100C>G | ENSP00000331369.5:p.Leu34Val | |
| ENST00000469676.1:n.1123C>G | ||
| ENST00000477685.5:n.251C>G | ||
| ENST00000484655.1:n.2655C>G | ||
| NM_001035505.1:c.100C>G | NP_001030582.1:p.Leu34Val | |
| NM_212552.2:c.100C>G | NP_997717.2:p.Leu34Val | |
| NM_212552.3:c.100C>G MANE Select | NP_997717.2:p.Leu34Val | |
| NM_001035505.2:c.100C>G | NP_001030582.1:p.Leu34Val |