HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31125705G>T , CM000668.2:g.31125705G>T | GRCh38 |
NC_000006.11:g.31093482G>T , CM000668.1:g.31093482G>T | GRCh37 |
NC_000006.10:g.31201461G>T | NCBI36 |
NG_021348.1:g.15875G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259881.10:c.-199G>T MANE Select | ENSP00000259881.9:n.-199G>T | |
ENST00000259881.9:c.-199G>T | ENSP00000259881.9:n.-199G>T | |
ENST00000479581.5:n.61+10814G>T | ||
ENST00000548049.1:n.146G>T | ||
ENST00000550838.1:n.59-34G>T | ||
ENST00000552747.1:n.53+10814G>T | ||
NM_014068.2:c.-199G>T | NP_054787.2:n.-199G>T | |
NM_014068.3:c.-199G>T MANE Select | NP_054787.2:n.-199G>T |