HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20187643T>C , CM000675.2:g.20187643T>C | GRCh38 |
NC_000013.10:g.20761782T>C , CM000675.1:g.20761782T>C | GRCh37 |
NC_000013.9:g.19659782T>C | NCBI36 |
NG_008358.1:g.10333A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382844.2:c.*1258A>G | ENSP00000372295.1:n.*1258A>G | |
ENST00000382848.5:c.*1258A>G MANE Select | ENSP00000372299.4:n.*1258A>G | |
ENST00000382844.1:c.*1258A>G | ENSP00000372295.1:n.*1258A>G | |
ENST00000382848.4:c.*1258A>G | ENSP00000372299.4:n.*1258A>G | |
NM_004004.5:c.*1258A>G | NP_003995.2:n.*1258A>G | |
XM_011535049.1:c.*1258A>G | XP_011533351.1:n.*1258A>G | |
XM_011535049.2:c.*1258A>G | XP_011533351.1:n.*1258A>G | |
NM_004004.6:c.*1258A>G MANE Select | NP_003995.2:n.*1258A>G |