HGVS | Genome Assembly |
---|---|
NC_000022.11:g.29313172C>A , CM000684.2:g.29313172C>A | GRCh38 |
NC_000022.10:g.29709161C>A , CM000684.1:g.29709161C>A | GRCh37 |
NC_000022.9:g.28039161C>A | NCBI36 |
NG_032959.1:g.11166C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216101.7:c.*129G>T MANE Select | ENSP00000216101.6:n.*129G>T | |
ENST00000216101.6:c.*129G>T | ENSP00000216101.6:n.*129G>T | |
ENST00000401450.3:c.*687G>T | ENSP00000386095.3:n.*687G>T | |
NM_006477.4:c.*129G>T | NP_006468.1:n.*129G>T | |
XM_011529821.1:c.*129G>T | XP_011528123.1:n.*129G>T | |
XM_011529822.1:c.*129G>T | XP_011528124.1:n.*129G>T | |
XM_011529823.1:c.*129G>T | XP_011528125.1:n.*129G>T | |
NM_006477.5:c.*129G>T MANE Select | NP_006468.1:n.*129G>T |