HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20189438C>G , CM000675.2:g.20189438C>G | GRCh38 |
NC_000013.10:g.20763577C>G , CM000675.1:g.20763577C>G | GRCh37 |
NC_000013.9:g.19661577C>G | NCBI36 |
NG_008358.1:g.8538G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382844.2:c.144G>C | ENSP00000372295.1:p.Gln48His | |
ENST00000382848.5:c.144G>C MANE Select | ENSP00000372299.4:p.Gln48His | |
ENST00000382844.1:c.144G>C | ENSP00000372295.1:p.Gln48His | |
ENST00000382848.4:c.144G>C | ENSP00000372299.4:p.Gln48His | |
NM_004004.5:c.144G>C | NP_003995.2:p.Gln48His | |
XM_011535049.1:c.144G>C | XP_011533351.1:p.Gln48His | |
XM_011535049.2:c.144G>C | XP_011533351.1:p.Gln48His | |
NM_004004.6:c.144G>C MANE Select | NP_003995.2:p.Gln48His |