HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128841049G>A , CM000669.2:g.128841049G>A | GRCh38 |
NC_000007.13:g.128481103G>A , CM000669.1:g.128481103G>A | GRCh37 |
NC_000007.12:g.128268339G>A | NCBI36 |
NG_011807.1:g.15621G>A , LRG_870:g.15621G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325888.13:c.1813+79G>A MANE Select | ENSP00000327145.8:n.1813+79G>A | |
ENST00000325888.12:c.1813+79G>A | ENSP00000327145.8:n.1813+79G>A | |
ENST00000346177.6:c.1813+79G>A | ENSP00000344002.6:n.1813+79G>A | |
NM_001127487.1:c.1813+79G>A | NP_001120959.1:n.1813+79G>A | |
NM_001458.4:c.1813+79G>A , LRG_870t1:c.1813+79G>A | NP_001449.3:n.1813+79G>A | |
NM_001127487.2:c.1813+79G>A | NP_001120959.1:n.1813+79G>A | |
NM_001458.5:c.1813+79G>A MANE Select | NP_001449.3:n.1813+79G>A |