HGVS | Genome Assembly |
---|---|
NC_000002.12:g.27519778C>T , CM000664.2:g.27519778C>T | GRCh38 |
NC_000002.11:g.27742645C>T , CM000664.1:g.27742645C>T | GRCh37 |
NC_000002.10:g.27596149C>T | NCBI36 |
NG_028024.1:g.27940C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264717.7:c.1572+841C>T MANE Select | ENSP00000264717.2:n.1572+841C>T | |
ENST00000264717.6:c.1572+841C>T | ENSP00000264717.2:n.1572+841C>T | |
NM_001486.3:c.1572+841C>T | NP_001477.2:n.1572+841C>T | |
XM_011532761.1:c.1419+841C>T | XP_011531063.1:n.1419+841C>T | |
XM_011532762.1:c.1002+841C>T | XP_011531064.1:n.1002+841C>T | |
XM_017003796.1:c.1002+841C>T | XP_016859285.1:n.1002+841C>T | |
XM_017003797.1:c.1002+841C>T | XP_016859286.1:n.1002+841C>T | |
NM_001486.4:c.1572+841C>T MANE Select | NP_001477.2:n.1572+841C>T |