HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7533915G>T , CM000681.2:g.7533915G>T | GRCh38 |
NC_000019.9:g.7598801G>T , CM000681.1:g.7598801G>T | GRCh37 |
NC_000019.8:g.7504801G>T | NCBI36 |
NG_013374.1:g.4764G>T | |
NG_015806.1:g.16306G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.*120G>T MANE Select | ENSP00000264079.5:n.*120G>T | |
ENST00000264079.10:c.*120G>T | ENSP00000264079.5:n.*120G>T | |
ENST00000394321.9:n.2178G>T | ||
ENST00000599334.1:c.591G>T | ||
ENST00000601870.1:c.169+47G>T | ||
ENST00000602227.1:n.417G>T | ||
NM_020533.2:c.*120G>T | NP_065394.1:n.*120G>T | |
NM_020533.3:c.*120G>T MANE Select | NP_065394.1:n.*120G>T |