HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20769442T>A , CM000686.2:g.20769442T>A | GRCh38 |
NC_000024.9:g.22931328T>A , CM000686.1:g.22931328T>A | GRCh37 |
NC_000024.8:g.21340716T>A | NCBI36 |
NG_032924.1:g.18375T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000629237.2:c.532+466T>A MANE Select | ENSP00000486252.1:n.532+466T>A | |
ENST00000629237.1:c.532+466T>A | ENSP00000486252.1:n.532+466T>A | |
NM_001039567.2:c.532+466T>A | NP_001034656.1:n.532+466T>A | |
XM_011531423.1:c.481+466T>A | XP_011529725.1:n.481+466T>A | |
NM_001039567.3:c.532+466T>A MANE Select | NP_001034656.1:n.532+466T>A |