HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31125747G>T , CM000668.2:g.31125747G>T | GRCh38 |
NC_000006.11:g.31093524G>T , CM000668.1:g.31093524G>T | GRCh37 |
NC_000006.10:g.31201503G>T | NCBI36 |
NG_021348.1:g.15917G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259881.10:c.-157G>T MANE Select | ENSP00000259881.9:n.-157G>T | |
ENST00000259881.9:c.-157G>T | ENSP00000259881.9:n.-157G>T | |
ENST00000479581.5:n.61+10856G>T | ||
ENST00000548049.1:n.188G>T | ||
ENST00000550838.1:n.67G>T | ||
ENST00000552747.1:n.53+10856G>T | ||
NM_014068.2:c.-157G>T | NP_054787.2:n.-157G>T | |
NM_014068.3:c.-157G>T MANE Select | NP_054787.2:n.-157G>T |