HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14871352C>G , CM000667.2:g.14871352C>G | GRCh38 |
NC_000005.9:g.14871461C>G , CM000667.1:g.14871461C>G | GRCh37 |
NC_000005.8:g.14924461C>G | NCBI36 |
NG_008273.1:g.5427G>C | |
NG_008273.2:g.5434G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000284268.8:c.96G>C MANE Select | ENSP00000284268.6:p.Gln32His | |
ENST00000284268.6:c.96G>C | ENSP00000284268.6:p.Gln32His | |
ENST00000505140.1:c.96G>C | ENSP00000426332.1:p.Gln32His | |
ENST00000513115.1:n.121G>C | ||
NM_054027.4:c.96G>C | NP_473368.1:p.Gln32His | |
XM_011514067.1:c.96G>C | XP_011512369.1:p.Gln32His | |
NM_054027.5:c.96G>C | NP_473368.1:p.Gln32His | |
NM_054027.6:c.96G>C MANE Select | NP_473368.1:p.Gln32His |