HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20760014T>G , CM000686.2:g.20760014T>G | GRCh38 |
NC_000024.9:g.22921900T>G , CM000686.1:g.22921900T>G | GRCh37 |
NC_000024.8:g.21331288T>G | NCBI36 |
NG_032924.1:g.8947T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000629237.2:c.228T>G MANE Select | ENSP00000486252.1:p.Val76= | |
ENST00000629237.1:c.228T>G | ENSP00000486252.1:p.Val76= | |
NM_001039567.2:c.228T>G | NP_001034656.1:p.Val76= | |
XM_011531423.1:c.177T>G | XP_011529725.1:p.Val59= | |
NM_001039567.3:c.228T>G MANE Select | NP_001034656.1:p.Val76= |