HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128841247T>A , CM000669.2:g.128841247T>A | GRCh38 |
NC_000007.13:g.128481301T>A , CM000669.1:g.128481301T>A | GRCh37 |
NC_000007.12:g.128268537T>A | NCBI36 |
NG_011807.1:g.15819T>A , LRG_870:g.15819T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325888.13:c.1891T>A MANE Select | ENSP00000327145.8:p.Trp631Arg | |
ENST00000325888.12:c.1891T>A | ENSP00000327145.8:p.Trp631Arg | |
ENST00000346177.6:c.1891T>A | ENSP00000344002.6:p.Trp631Arg | |
NM_001127487.1:c.1891T>A | NP_001120959.1:p.Trp631Arg | |
NM_001458.4:c.1891T>A , LRG_870t1:c.1891T>A | NP_001449.3:p.Trp631Arg | |
NM_001127487.2:c.1891T>A | NP_001120959.1:p.Trp631Arg | |
NM_001458.5:c.1891T>A MANE Select | NP_001449.3:p.Trp631Arg |