HGVS | Genome Assembly |
---|---|
NC_000018.10:g.7042172C>G , CM000680.2:g.7042172C>G | GRCh38 |
NC_000018.9:g.7042171C>G , CM000680.1:g.7042171C>G | GRCh37 |
NC_000018.8:g.7032171C>G | NCBI36 |
NG_034251.1:g.80643G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000389658.4:c.1234G>C MANE Select | ENSP00000374309.3:p.Asp412His | |
ENST00000389658.3:c.1234G>C | ENSP00000374309.3:p.Asp412His | |
ENST00000579014.5:n.2249G>C | ||
NM_005559.3:c.1234G>C | NP_005550.2:p.Asp412His | |
XM_011525655.1:c.1234G>C | XP_011523957.1:p.Asp412His | |
XM_011525657.1:c.1234G>C | XP_011523959.1:p.Asp412His | |
XM_011525655.2:c.1234G>C | XP_011523957.1:p.Asp412His | |
NM_005559.4:c.1234G>C MANE Select | NP_005550.2:p.Asp412His |