HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44249142G>C , CM000679.2:g.44249142G>C | GRCh38 |
NC_000017.10:g.42326510G>C , CM000679.1:g.42326510G>C | GRCh37 |
NC_000017.9:g.39682036G>C | NCBI36 |
NG_007498.1:g.23993C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262418.12:c.*1316C>G MANE Select | ENSP00000262418.6:n.*1316C>G | |
ENST00000262418.10:c.*1316C>G | ENSP00000262418.6:n.*1316C>G | |
ENST00000399246.3:c.*1316C>G | ENSP00000382190.3:n.*1316C>G | |
ENST00000631130.1:c.63C>G | ENSP00000486787.1:p.His21Gln | |
NM_000342.3:c.*1316C>G | NP_000333.1:n.*1316C>G | |
XM_005257593.3:c.*1316C>G | XP_005257650.1:n.*1316C>G | |
XM_011525129.1:c.*1316C>G | XP_011523431.1:n.*1316C>G | |
NM_000342.4:c.*1316C>G MANE Select | NP_000333.1:n.*1316C>G |