HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985822G>T , CM000678.2:g.1985822G>T | GRCh38 |
NC_000016.9:g.2035823G>T , CM000678.1:g.2035823G>T | GRCh37 |
NC_000016.8:g.1975824G>T | NCBI36 |
NG_016288.1:g.6674G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.231-44G>T | ENSP00000455885.1:n.231-44G>T | |
ENST00000248114.7:c.456-44G>T MANE Select | ENSP00000248114.6:n.456-44G>T | |
ENST00000248114.6:c.456-44G>T | ENSP00000248114.6:n.456-44G>T | |
ENST00000565658.1:n.613-44G>T | ||
ENST00000567719.1:c.231-44G>T | ENSP00000455885.1:n.231-44G>T | |
ENST00000569451.1:c.259-44G>T | ENSP00000456432.1:n.259-44G>T | |
NM_005262.2:c.456-44G>T | NP_005253.3:n.456-44G>T | |
NM_005262.3:c.456-44G>T MANE Select | NP_005253.3:n.456-44G>T |