HGVS | Genome Assembly |
---|---|
NC_000011.10:g.60441276A>G , CM000673.2:g.60441276A>G | GRCh38 |
NC_000011.9:g.60208749A>G , CM000673.1:g.60208749A>G | GRCh37 |
NC_000011.8:g.59965325A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000300190.7:c.493-6373A>G MANE Select | ENSP00000300190.2:n.493-6373A>G | |
ENST00000300190.6:c.493-6373A>G | ENSP00000300190.2:n.493-6373A>G | |
ENST00000528093.1:c.136-6373A>G | ||
ENST00000528905.1:c.260-6373A>G | ||
ENST00000531403.5:c.*101-6373A>G | ENSP00000435192.1:n.*101-6373A>G | |
ENST00000533885.5:c.*103+5761A>G | ENSP00000435330.1:n.*103+5761A>G | |
NM_023945.2:c.493-6373A>G | NP_076434.2:n.493-6373A>G | |
NM_023945.3:c.493-6373A>G MANE Select | NP_076434.2:n.493-6373A>G |