HGVS | Genome Assembly |
---|---|
NC_000002.12:g.162267341C>T , CM000664.2:g.162267341C>T | GRCh38 |
NC_000002.11:g.163123851C>T , CM000664.1:g.163123851C>T | GRCh37 |
NC_000002.10:g.162832097C>T | NCBI36 |
NG_011495.1:g.56189G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000697291.1:c.*2534G>A | ENSP00000513228.1:n.*2534G>A | |
ENST00000648433.1:c.2820G>A | ENSP00000496816.1:p.Leu940= | |
ENST00000649426.1:n.698G>A | ||
ENST00000649554.1:n.2547G>A | ||
ENST00000649979.2:c.2937G>A MANE Select | ENSP00000497271.1:p.Leu979= | |
ENST00000679938.1:c.2625G>A | ENSP00000505518.1:p.Leu875= | |
ENST00000263642.2:c.2937G>A | ENSP00000263642.2:p.Leu979= | |
NM_022168.3:c.2937G>A | NP_071451.2:p.Leu979= | |
XM_011511628.1:c.2220G>A | XP_011509930.1:p.Leu740= | |
NM_022168.4:c.2937G>A MANE Select | NP_071451.2:p.Leu979= |