HGVS | Genome Assembly |
---|---|
NC_000001.11:g.218442109A>C , CM000663.2:g.218442109A>C | GRCh38 |
NC_000001.10:g.218615451A>C , CM000663.1:g.218615451A>C | GRCh37 |
NC_000001.9:g.216682074A>C | NCBI36 |
NG_027721.1:g.101776A>C | |
NG_027721.2:g.101776A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366930.9:c.*747A>C MANE Select | ENSP00000355897.4:n.*747A>C | |
ENST00000366929.4:c.*747A>C | ENSP00000355896.4:n.*747A>C | |
ENST00000366930.8:c.*747A>C | ENSP00000355897.4:n.*747A>C | |
ENST00000479322.1:n.1476A>C | ||
NM_001135599.2:c.*747A>C | NP_001129071.1:n.*747A>C | |
NM_003238.3:c.*747A>C | NP_003229.1:n.*747A>C | |
NM_001135599.3:c.*747A>C | NP_001129071.1:n.*747A>C | |
NM_003238.4:c.*747A>C | NP_003229.1:n.*747A>C | |
NR_138148.1:n.3295A>C | ||
NR_138149.1:n.3379A>C | ||
NM_003238.5:c.*747A>C | NP_003229.1:n.*747A>C | |
NM_003238.6:c.*747A>C MANE Select | NP_003229.1:n.*747A>C | |
NM_001135599.4:c.*747A>C | NP_001129071.1:n.*747A>C | |
NR_138148.2:n.3243A>C | ||
NR_138149.2:n.3327A>C |