HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21881180G>T , CM000669.2:g.21881180G>T | GRCh38 |
NC_000007.13:g.21920798G>T , CM000669.1:g.21920798G>T | GRCh37 |
NC_000007.12:g.21887323G>T | NCBI36 |
NG_012886.2:g.342966G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.12387+287G>T MANE Select | ENSP00000475939.1:n.12387+287G>T | |
ENST00000328843.10:c.12408+287G>T | ENSP00000330671.7:n.12408+287G>T | |
ENST00000409508.7:c.12387+287G>T | ENSP00000475939.1:n.12387+287G>T | |
ENST00000620169.4:c.12408+287G>T | ENSP00000481693.1:n.12408+287G>T | |
NM_001277115.1:c.12387+287G>T | NP_001264044.1:n.12387+287G>T | |
NM_001277115.2:c.12387+287G>T MANE Select | NP_001264044.1:n.12387+287G>T |