HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31125692G>T , CM000668.2:g.31125692G>T | GRCh38 |
NC_000006.11:g.31093469G>T , CM000668.1:g.31093469G>T | GRCh37 |
NC_000006.10:g.31201448G>T | NCBI36 |
NG_021348.1:g.15862G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259881.10:c.-212G>T MANE Select | ENSP00000259881.9:n.-212G>T | |
ENST00000259881.9:c.-212G>T | ENSP00000259881.9:n.-212G>T | |
ENST00000479581.5:n.61+10801G>T | ||
ENST00000548049.1:n.133G>T | ||
ENST00000550838.1:n.59-47G>T | ||
ENST00000552747.1:n.53+10801G>T | ||
NM_014068.2:c.-212G>T | NP_054787.2:n.-212G>T | |
NM_014068.3:c.-212G>T MANE Select | NP_054787.2:n.-212G>T |