HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161963258G>A , CM000663.2:g.161963258G>A | GRCh38 |
NC_000001.10:g.161933048G>A , CM000663.1:g.161933048G>A | GRCh37 |
NC_000001.9:g.160199672G>A | NCBI36 |
NG_029773.1:g.202015G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367942.4:c.*4604G>A MANE Select | ENSP00000356919.3:n.*4604G>A | |
ENST00000681738.1:c.*56+4548G>A | ENSP00000505025.1:n.*56+4548G>A | |
ENST00000681801.1:c.*56+4548G>A | ENSP00000505998.1:n.*56+4548G>A | |
ENST00000367942.3:c.*4604G>A | ENSP00000356919.3:n.*4604G>A | |
NM_007348.3:c.*4604G>A | NP_031374.2:n.*4604G>A | |
XM_006711224.1:c.*4604G>A | XP_006711287.1:n.*4604G>A | |
XM_011509308.1:c.*4604G>A | XP_011507610.1:n.*4604G>A | |
XM_011509309.1:c.*4604G>A | XP_011507611.1:n.*4604G>A | |
NM_007348.4:c.*4604G>A MANE Select | NP_031374.2:n.*4604G>A |