HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128843656C>A , CM000669.2:g.128843656C>A | GRCh38 |
NC_000007.13:g.128483710C>A , CM000669.1:g.128483710C>A | GRCh37 |
NC_000007.12:g.128270946C>A | NCBI36 |
NG_011807.1:g.18228C>A , LRG_870:g.18228C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325888.13:c.2811+79C>A MANE Select | ENSP00000327145.8:n.2811+79C>A | |
ENST00000325888.12:c.2811+79C>A | ENSP00000327145.8:n.2811+79C>A | |
ENST00000346177.6:c.2811+79C>A | ENSP00000344002.6:n.2811+79C>A | |
NM_001127487.1:c.2811+79C>A | NP_001120959.1:n.2811+79C>A | |
NM_001458.4:c.2811+79C>A , LRG_870t1:c.2811+79C>A | NP_001449.3:n.2811+79C>A | |
NM_001127487.2:c.2811+79C>A | NP_001120959.1:n.2811+79C>A | |
NM_001458.5:c.2811+79C>A MANE Select | NP_001449.3:n.2811+79C>A |