HGVS | Genome Assembly |
---|---|
NC_000002.12:g.118985008C>A , CM000664.2:g.118985008C>A | GRCh38 |
NC_000002.11:g.119742584C>A , CM000664.1:g.119742584C>A | GRCh37 |
NC_000002.10:g.119459054C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327097.5:c.1063+2598C>A MANE Select | ENSP00000318916.4:n.1063+2598C>A | |
ENST00000327097.4:c.1063+2598C>A | ENSP00000318916.4:n.1063+2598C>A | |
NM_006770.3:c.1063+2598C>A | NP_006761.1:n.1063+2598C>A | |
XM_011512082.1:c.1063+2598C>A | XP_011510384.1:n.1063+2598C>A | |
XM_011512083.1:c.700+2598C>A | XP_011510385.1:n.700+2598C>A | |
XM_011512082.2:c.1063+2598C>A | XP_011510384.1:n.1063+2598C>A | |
XM_011512083.3:c.700+2598C>A | XP_011510385.1:n.700+2598C>A | |
NM_006770.4:c.1063+2598C>A MANE Select | NP_006761.1:n.1063+2598C>A |