HGVS | Genome Assembly |
---|---|
NC_000005.10:g.137111538T>C , CM000667.2:g.137111538T>C | GRCh38 |
NC_000005.9:g.136447227T>C , CM000667.1:g.136447227T>C | GRCh37 |
NC_000005.8:g.136475126T>C | NCBI36 |
NG_034127.1:g.392792A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000394945.6:c.474+897A>G MANE Select | ENSP00000378401.1:n.474+897A>G | |
ENST00000282223.11:c.288+897A>G | ENSP00000282223.9:n.288+897A>G | |
ENST00000394945.5:c.474+897A>G | ENSP00000378401.1:n.474+897A>G | |
ENST00000510689.5:c.39+897A>G | ENSP00000421677.1:n.39+897A>G | |
ENST00000635347.1:n.447+897A>G | ||
NM_004598.3:c.474+897A>G | NP_004589.1:n.474+897A>G | |
NM_004598.4:c.474+897A>G MANE Select | NP_004589.1:n.474+897A>G |