HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73332131C>G , CM000677.2:g.73332131C>G | GRCh38 |
NC_000015.9:g.73624472C>G , CM000677.1:g.73624472C>G | GRCh37 |
NC_000015.8:g.71411525C>G | NCBI36 |
NG_009063.1:g.42134G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261917.4:c.1371G>C MANE Select | ENSP00000261917.3:p.Val457= | |
ENST00000261917.3:c.1371G>C | ENSP00000261917.3:p.Val457= | |
NM_005477.2:c.1371G>C | NP_005468.1:p.Val457= | |
XM_011521148.1:c.153G>C | XP_011519450.1:p.Val51= | |
XM_011521148.2:c.153G>C | XP_011519450.1:p.Val51= | |
NM_005477.3:c.1371G>C MANE Select | NP_005468.1:p.Val457= |