HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14871338G>C , CM000667.2:g.14871338G>C | GRCh38 |
NC_000005.9:g.14871447G>C , CM000667.1:g.14871447G>C | GRCh37 |
NC_000005.8:g.14924447G>C | NCBI36 |
NG_008273.1:g.5441C>G | |
NG_008273.2:g.5448C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.96+14C>G MANE Select | ENSP00000284268.6:n.96+14C>G | |
ENST00000284268.6:c.96+14C>G | ENSP00000284268.6:n.96+14C>G | |
ENST00000505140.1:c.110C>G | ENSP00000426332.1:p.Pro37Arg | |
ENST00000513115.1:n.121+14C>G | ||
NM_054027.4:c.96+14C>G | NP_473368.1:n.96+14C>G | |
XM_011514067.1:c.96+14C>G | XP_011512369.1:n.96+14C>G | |
NM_054027.5:c.96+14C>G | NP_473368.1:n.96+14C>G | |
NM_054027.6:c.96+14C>G MANE Select | NP_473368.1:n.96+14C>G |