HGVS | Genome Assembly |
---|---|
NC_000003.12:g.184060145C>A , CM000665.2:g.184060145C>A | GRCh38 |
NC_000003.11:g.183777933C>A , CM000665.1:g.183777933C>A | GRCh37 |
NC_000003.10:g.185260627C>A | NCBI36 |
NG_012749.1:g.12099C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000318351.2:c.1142-5C>A MANE Select | ENSP00000322617.1:n.1142-5C>A | |
ENST00000318351.1:c.1142-5C>A | ENSP00000322617.1:n.1142-5C>A | |
NM_130770.2:c.1142-5C>A | NP_570126.2:n.1142-5C>A | |
NM_130770.3:c.1142-5C>A MANE Select | NP_570126.2:n.1142-5C>A |