HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169282866T>A , CM000664.2:g.169282866T>A | GRCh38 |
NC_000002.11:g.170139376T>A , CM000664.1:g.170139376T>A | GRCh37 |
NC_000002.10:g.169847622T>A | NCBI36 |
NG_012634.1:g.84747A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649046.1:c.1171+7A>T MANE Select | ENSP00000496870.1:n.1171+7A>T | |
ENST00000263816.7:c.1171+7A>T | ENSP00000263816.3:n.1171+7A>T | |
ENST00000443831.1:c.1171+7A>T | ENSP00000409813.1:n.1171+7A>T | |
NM_004525.2:c.1171+7A>T | NP_004516.2:n.1171+7A>T | |
XM_011511183.1:c.1171+7A>T | XP_011509485.1:n.1171+7A>T | |
XM_011511185.1:c.1171+7A>T | XP_011509487.1:n.1171+7A>T | |
NM_004525.3:c.1171+7A>T MANE Select | NP_004516.2:n.1171+7A>T | |
XM_011511183.3:c.1171+7A>T | XP_011509485.1:n.1171+7A>T |