HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173396A>G , CM000678.2:g.173396A>G | GRCh38 |
NC_000016.9:g.223395A>G , CM000678.1:g.223395A>G | GRCh37 |
NC_000016.8:g.163395A>G | NCBI36 |
NG_000006.1:g.34259A>G | |
NG_059186.1:g.1746A>G | |
NG_059271.1:g.5550A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.300+67A>G MANE Select | ENSP00000251595.6:n.300+67A>G | |
ENST00000251595.10:c.300+67A>G | ENSP00000251595.6:n.300+67A>G | |
ENST00000397806.1:c.204+67A>G | ENSP00000380908.1:n.204+67A>G | |
ENST00000482565.1:n.436+67A>G | ||
ENST00000484216.1:n.336A>G | ||
NM_000517.4:c.300+67A>G | NP_000508.1:n.300+67A>G | |
NM_000517.6:c.300+67A>G MANE Select | NP_000508.1:n.300+67A>G |