HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21854308A>G , CM000669.2:g.21854308A>G | GRCh38 |
NC_000007.13:g.21893926A>G , CM000669.1:g.21893926A>G | GRCh37 |
NC_000007.12:g.21860451A>G | NCBI36 |
NG_012886.2:g.316094A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409508.8:c.11062-7A>G MANE Select | ENSP00000475939.1:n.11062-7A>G | |
ENST00000328843.10:c.11083-7A>G | ENSP00000330671.7:n.11083-7A>G | |
ENST00000409508.7:c.11062-7A>G | ENSP00000475939.1:n.11062-7A>G | |
ENST00000421290.1:n.245-7A>G | ||
ENST00000607413.5:n.325-7A>G | ||
ENST00000620169.4:c.11083-7A>G | ENSP00000481693.1:n.11083-7A>G | |
NM_001277115.1:c.11062-7A>G | NP_001264044.1:n.11062-7A>G | |
NM_001277115.2:c.11062-7A>G MANE Select | NP_001264044.1:n.11062-7A>G |