HGVS | Genome Assembly |
---|---|
NC_000007.14:g.146351695T>G , CM000669.2:g.146351695T>G | GRCh38 |
NC_000007.13:g.146048787T>G , CM000669.1:g.146048787T>G | GRCh37 |
NC_000007.12:g.145679720T>G | NCBI36 |
NG_007092.2:g.240335T>G | |
NG_007092.3:g.240695T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361727.8:c.97+234722T>G MANE Select | ENSP00000354778.3:n.97+234722T>G | |
ENST00000637150.1:n.26+234722T>G | ||
ENST00000361727.7:c.97+234722T>G | ENSP00000354778.3:n.97+234722T>G | |
ENST00000625365.2:c.97+234722T>G | ENSP00000485955.1:n.97+234722T>G | |
NM_014141.5:c.97+234722T>G | NP_054860.1:n.97+234722T>G | |
XM_017011950.2:c.97+234722T>G | XP_016867439.1:n.97+234722T>G | |
NM_014141.6:c.97+234722T>G MANE Select | NP_054860.1:n.97+234722T>G |