HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186453406C>G , CM000663.2:g.186453406C>G | GRCh38 |
NC_000001.10:g.186422538C>G , CM000663.1:g.186422538C>G | GRCh37 |
NC_000001.9:g.184689161C>G | NCBI36 |
NG_009101.1:g.12702G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000391997.3:c.-24-3923G>C (PDC) MANE Select | ENSP00000375855.2:n.-24-3923G>C | |
ENST00000391997.2:c.-24-3923G>C (PDC) | ENSP00000375855.2:n.-24-3923G>C | |
NM_002597.4:c.-24-3923G>C (PDC) | NP_002588.3:n.-24-3923G>C | |
NR_126002.1:n.441+2132C>G (PDC-AS1) | ||
NM_002597.5:c.-24-3923G>C (PDC) MANE Select | NP_002588.3:n.-24-3923G>C |