HGVS | Genome Assembly |
---|---|
NC_000020.11:g.45947884C>T , CM000682.2:g.45947884C>T | GRCh38 |
NC_000020.10:g.44576523C>T , CM000682.1:g.44576523C>T | GRCh37 |
NC_000020.9:g.44009930C>T | NCBI36 |
NG_029772.1:g.29311G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372409.8:c.*129C>T MANE Select | ENSP00000361486.3:n.*129C>T | |
ENST00000372409.7:c.*129C>T | ENSP00000361486.3:n.*129C>T | |
ENST00000479348.2:c.1185C>T | ||
NM_022104.3:c.*129C>T | NP_071387.1:n.*129C>T | |
XM_011528980.1:c.*129C>T | XP_011527282.1:n.*129C>T | |
XM_011528981.1:c.*129C>T | XP_011527283.1:n.*129C>T | |
XM_011528982.1:c.*129C>T | XP_011527284.1:n.*129C>T | |
XM_011528980.3:c.*129C>T | XP_011527282.1:n.*129C>T | |
XM_011528981.3:c.*129C>T | XP_011527283.1:n.*129C>T | |
XM_017028013.2:c.*129C>T | XP_016883502.1:n.*129C>T | |
XM_017028014.2:c.*129C>T | XP_016883503.1:n.*129C>T | |
NM_022104.4:c.*129C>T MANE Select | NP_071387.1:n.*129C>T |