HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65245984G>A , CM000674.2:g.65245984G>A | GRCh38 |
NC_000012.11:g.65639764G>A , CM000674.1:g.65639764G>A | GRCh37 |
NC_000012.10:g.63926031G>A | NCBI36 |
NG_016210.1:g.81414G>A | |
NG_016210.2:g.81414G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.2572+45G>A MANE Select | ENSP00000308369.2:n.2572+45G>A | |
ENST00000308330.2:c.2572+45G>A | ENSP00000308369.2:n.2572+45G>A | |
ENST00000539442.1:n.554+45G>A | ||
ENST00000544506.1:n.292+45G>A | ||
ENST00000545026.1:n.390+45G>A | ||
NM_001167614.1:c.2569+45G>A | NP_001161086.1:n.2569+45G>A | |
NM_014319.4:c.2572+45G>A | NP_055134.2:n.2572+45G>A | |
NM_014319.5:c.2572+45G>A MANE Select | NP_055134.2:n.2572+45G>A | |
NM_001167614.2:c.2569+45G>A | NP_001161086.1:n.2569+45G>A |