HGVS | Genome Assembly |
---|---|
NC_000018.10:g.13885173C>G , CM000680.2:g.13885173C>G | GRCh38 |
NC_000018.9:g.13885172C>G , CM000680.1:g.13885172C>G | GRCh37 |
NC_000018.8:g.13875172C>G | NCBI36 |
NG_011819.1:g.35364G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000327606.4:c.346G>C MANE Select | ENSP00000333821.2:p.Gly116Arg | |
ENST00000327606.3:c.346G>C | ENSP00000333821.2:p.Gly116Arg | |
ENST00000399821.2:c.346G>C | ENSP00000382718.2:p.Gly116Arg | |
NM_000529.2:c.346G>C MANE Select | NP_000520.1:p.Gly116Arg | |
NM_001291911.1:c.346G>C | NP_001278840.1:p.Gly116Arg | |
XM_017025781.1:c.346G>C | XP_016881270.1:p.Gly116Arg |