HGVS | Genome Assembly |
---|---|
NC_000012.12:g.107001782G>T , CM000674.2:g.107001782G>T | GRCh38 |
NC_000012.11:g.107395560G>T , CM000674.1:g.107395560G>T | GRCh37 |
NC_000012.10:g.105919690G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000008527.10:c.577C>A MANE Select | ENSP00000008527.5:p.Pro193Thr | |
ENST00000008527.9:c.577C>A | ENSP00000008527.5:p.Pro193Thr | |
ENST00000546722.1:n.70C>A | ||
ENST00000552790.5:n.1136C>A | ||
NM_004075.4:c.577C>A | NP_004066.1:p.Pro193Thr | |
XM_011537939.1:c.493C>A | XP_011536241.1:p.Pro165Thr | |
XM_017018832.2:c.493C>A | XP_016874321.1:p.Pro165Thr | |
XM_024448844.1:c.577C>A | XP_024304612.1:p.Pro193Thr | |
XM_024448845.1:c.493C>A | XP_024304613.1:p.Pro165Thr | |
NM_004075.5:c.577C>A MANE Select | NP_004066.1:p.Pro193Thr |