HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173384T>A , CM000678.2:g.173384T>A | GRCh38 |
NC_000016.9:g.223383T>A , CM000678.1:g.223383T>A | GRCh37 |
NC_000016.8:g.163383T>A | NCBI36 |
NG_000006.1:g.34247T>A | |
NG_059186.1:g.1734T>A | |
NG_059271.1:g.5538T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.300+55T>A MANE Select | ENSP00000251595.6:n.300+55T>A | |
ENST00000251595.10:c.300+55T>A | ENSP00000251595.6:n.300+55T>A | |
ENST00000397806.1:c.204+55T>A | ENSP00000380908.1:n.204+55T>A | |
ENST00000482565.1:n.436+55T>A | ||
ENST00000484216.1:n.324T>A | ||
NM_000517.4:c.300+55T>A | NP_000508.1:n.300+55T>A | |
NM_000517.6:c.300+55T>A MANE Select | NP_000508.1:n.300+55T>A |