HGVS | Genome Assembly |
---|---|
NC_000001.11:g.46399410T>A , CM000663.2:g.46399410T>A | GRCh38 |
NC_000001.10:g.46865082T>A , CM000663.1:g.46865082T>A | GRCh37 |
NC_000001.9:g.46637669T>A | NCBI36 |
NG_012195.1:g.10144T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000243167.9:c.196-2681T>A MANE Select | ENSP00000243167.8:n.196-2681T>A | |
ENST00000243167.8:c.196-2681T>A | ENSP00000243167.8:n.196-2681T>A | |
ENST00000468718.5:n.216-2681T>A | ||
ENST00000493735.5:n.174-2681T>A | ||
NM_001441.2:c.196-2681T>A | NP_001432.2:n.196-2681T>A | |
NM_001441.3:c.196-2681T>A MANE Select | NP_001432.2:n.196-2681T>A |