Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884924G>C , CM000680.2:g.13884924G>C | GRCh38 |
| NC_000018.9:g.13884923G>C , CM000680.1:g.13884923G>C | GRCh37 |
| NC_000018.8:g.13874923G>C | NCBI36 |
| NG_011819.1:g.35613C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.595C>G MANE Select | ENSP00000333821.2:p.Leu199Val | |
| ENST00000327606.3:c.595C>G | ENSP00000333821.2:p.Leu199Val | |
| NM_000529.2:c.595C>G MANE Select | NP_000520.1:p.Leu199Val | |
| NM_001291911.1:c.595C>G | NP_001278840.1:p.Leu199Val | |
| XM_017025781.1:c.595C>G | XP_016881270.1:p.Leu199Val |