HGVS | Genome Assembly |
---|---|
NC_000002.12:g.162267553T>G , CM000664.2:g.162267553T>G | GRCh38 |
NC_000002.11:g.163124063T>G , CM000664.1:g.163124063T>G | GRCh37 |
NC_000002.10:g.162832309T>G | NCBI36 |
NG_011495.1:g.55977A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000697291.1:c.*2421A>C | ENSP00000513228.1:n.*2421A>C | |
ENST00000648433.1:c.2707A>C | ENSP00000496816.1:p.Arg903= | |
ENST00000649426.1:n.585A>C | ||
ENST00000649554.1:n.2434A>C | ||
ENST00000649979.2:c.2824A>C MANE Select | ENSP00000497271.1:p.Arg942= | |
ENST00000679938.1:c.2512A>C | ENSP00000505518.1:p.Arg838= | |
ENST00000263642.2:c.2824A>C | ENSP00000263642.2:p.Arg942= | |
NM_022168.3:c.2824A>C | NP_071451.2:p.Arg942= | |
XM_011511628.1:c.2107A>C | XP_011509930.1:p.Arg703= | |
NM_022168.4:c.2824A>C MANE Select | NP_071451.2:p.Arg942= |