HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186453417T>C , CM000663.2:g.186453417T>C | GRCh38 |
NC_000001.10:g.186422549T>C , CM000663.1:g.186422549T>C | GRCh37 |
NC_000001.9:g.184689172T>C | NCBI36 |
NG_009101.1:g.12691A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000391997.3:c.-24-3934A>G (PDC) MANE Select | ENSP00000375855.2:n.-24-3934A>G | |
ENST00000391997.2:c.-24-3934A>G (PDC) | ENSP00000375855.2:n.-24-3934A>G | |
NM_002597.4:c.-24-3934A>G (PDC) | NP_002588.3:n.-24-3934A>G | |
NR_126002.1:n.441+2143T>C (PDC-AS1) | ||
NM_002597.5:c.-24-3934A>G (PDC) MANE Select | NP_002588.3:n.-24-3934A>G |