HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255612G= , CM000671.2:g.133255612G= | GRCh38 |
NC_000009.11:g.136130999G= , CM000671.1:g.136130999G= | GRCh37 |
NC_000009.10:g.135120820G= | NCBI36 |
NG_006669.1:g.22056C= | |
NG_006669.2:g.24604C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.1148C= | ||
ENST00000647353.1:n.54-4460C= | ||
ENST00000679909.1:c.28+19550C= | ENSP00000506089.1:n.28+19550C= | |
ENST00000453660.3:n.1130C= | ||
ENST00000538324.2:c.1112C= | ENSP00000483018.1:p.Pro371= | |
ENST00000611156.4:c.*54C= | ENSP00000483265.1:n.*54C= | |
NM_020469.2:c.*54C= | NP_065202.2:n.*54C= | |
NM_020469.3:c.*54C= | NP_065202.2:n.*54C= |