HGVS | Genome Assembly |
---|---|
NC_000007.14:g.30594763C>A , CM000669.2:g.30594763C>A | GRCh38 |
NC_000007.13:g.30634379C>A , CM000669.1:g.30634379C>A | GRCh37 |
NC_000007.12:g.30600904C>A | NCBI36 |
NG_007942.1:g.5199C>A , LRG_243:g.5199C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000675051.1:c.22-4033C>A | ENSP00000502296.1:n.22-4033C>A | |
ENST00000389266.7:c.-159C>A | ENSP00000373918.3:n.-159C>A | |
NM_001316772.1:c.-321C>A | NP_001303701.1:n.-321C>A | |
NM_002047.2:c.-159C>A , LRG_243t1:c.-159C>A | NP_002038.2:n.-159C>A |