HGVS | Genome Assembly |
---|---|
NC_000014.9:g.49621962C>G , CM000676.2:g.49621962C>G | GRCh38 |
NC_000014.8:g.50088680C>G , CM000676.1:g.50088680C>G | GRCh37 |
NC_000014.7:g.49158430C>G | NCBI36 |
NG_008920.1:g.6192C>G | |
NG_033054.1:g.3670G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305386.4:c.694C>G MANE Select | ENSP00000307423.2:p.His232Asp | |
ENST00000305386.3:c.694C>G | ENSP00000307423.2:p.His232Asp | |
NM_002408.3:c.694C>G | NP_002399.1:p.His232Asp | |
NM_002408.4:c.694C>G MANE Select | NP_002399.1:p.His232Asp |