HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173422G>T , CM000678.2:g.173422G>T | GRCh38 |
NC_000016.9:g.223421G>T , CM000678.1:g.223421G>T | GRCh37 |
NC_000016.8:g.163421G>T | NCBI36 |
NG_000006.1:g.34285G>T | |
NG_059186.1:g.1772G>T | |
NG_059271.1:g.5576G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.301-50G>T MANE Select | ENSP00000251595.6:n.301-50G>T | |
ENST00000251595.10:c.301-50G>T | ENSP00000251595.6:n.301-50G>T | |
ENST00000397806.1:c.205-50G>T | ENSP00000380908.1:n.205-50G>T | |
ENST00000482565.1:n.437-50G>T | ||
ENST00000484216.1:n.362G>T | ||
NM_000517.4:c.301-50G>T | NP_000508.1:n.301-50G>T | |
NM_000517.6:c.301-50G>T MANE Select | NP_000508.1:n.301-50G>T |