HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14871495A>C , CM000667.2:g.14871495A>C | GRCh38 |
NC_000005.9:g.14871604A>C , CM000667.1:g.14871604A>C | GRCh37 |
NC_000005.8:g.14924604A>C | NCBI36 |
NG_008273.1:g.5284T>G | |
NG_008273.2:g.5291T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.-48T>G MANE Select | ENSP00000284268.6:n.-48T>G | |
ENST00000284268.6:c.-48T>G | ENSP00000284268.6:n.-48T>G | |
ENST00000505140.1:c.-48T>G | ENSP00000426332.1:n.-48T>G | |
NM_054027.4:c.-48T>G | NP_473368.1:n.-48T>G | |
XM_011514067.1:c.-48T>G | XP_011512369.1:n.-48T>G | |
NM_054027.5:c.-48T>G | NP_473368.1:n.-48T>G | |
NM_054027.6:c.-48T>G MANE Select | NP_473368.1:n.-48T>G |