HGVS | Genome Assembly |
---|---|
NC_000007.14:g.4683903G>A , CM000669.2:g.4683903G>A | GRCh38 |
NC_000007.13:g.4723534G>A , CM000669.1:g.4723534G>A | GRCh37 |
NC_000007.12:g.4690060G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000328914.5:c.560+1035G>A MANE Select | ENSP00000328720.4:n.560+1035G>A | |
ENST00000328914.4:c.560+1035G>A | ENSP00000328720.4:n.560+1035G>A | |
NM_001037165.1:c.560+1035G>A | NP_001032242.1:n.560+1035G>A | |
XM_011515191.1:c.71+8578G>A | XP_011513493.1:n.71+8578G>A | |
XM_011515191.3:c.71+8578G>A | XP_011513493.1:n.71+8578G>A | |
XM_024446685.1:c.71+8578G>A | XP_024302453.1:n.71+8578G>A | |
NM_001037165.2:c.560+1035G>A MANE Select | NP_001032242.1:n.560+1035G>A |