HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24441518G>A , CM000668.2:g.24441518G>A | GRCh38 |
NC_000006.11:g.24441746G>A , CM000668.1:g.24441746G>A | GRCh37 |
NC_000006.10:g.24549725G>A | NCBI36 |
NG_029888.2:g.53105C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000230036.2:c.2020+4028C>T MANE Select | ENSP00000230036.1:n.2020+4028C>T | |
ENST00000230036.1:c.2020+4028C>T | ENSP00000230036.1:n.2020+4028C>T | |
NM_001503.3:c.2020+4028C>T | NP_001494.2:n.2020+4028C>T | |
XM_005249018.1:c.1531+4028C>T | XP_005249075.1:n.1531+4028C>T | |
XM_017010753.2:c.2050+4028C>T | XP_016866242.1:n.2050+4028C>T | |
XM_024446403.1:c.1531+4028C>T | XP_024302171.1:n.1531+4028C>T | |
XR_002956277.1:n.2232+4028C>T | ||
NM_001503.4:c.2020+4028C>T MANE Select | NP_001494.2:n.2020+4028C>T |