HGVS | Genome Assembly |
---|---|
NC_000014.9:g.100883180G>T , CM000676.2:g.100883180G>T | GRCh38 |
NC_000014.8:g.101349517G>T , CM000676.1:g.101349517G>T | GRCh37 |
NC_000014.7:g.100419270G>T | NCBI36 |
NG_045001.1:g.6668C>A | |
NG_045000.5:g.51912G>T | |
NG_045000.6:g.51912G>T | |
NG_045001.2:g.25543C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649591.1:c.1609C>A MANE Select | ENSP00000497482.1:p.Pro537Thr | |
ENST00000534062.1:c.1609C>A | ENSP00000435342.1:p.Pro537Thr | |
NM_001134888.2:c.1609C>A | NP_001128360.1:p.Pro537Thr | |
NM_001134888.3:c.1609C>A MANE Select | NP_001128360.1:p.Pro537Thr |