HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255623G= , CM000671.2:g.133255623G= | GRCh38 |
NC_000009.11:g.136131010G= , CM000671.1:g.136131010G= | GRCh37 |
NC_000009.10:g.135120831G= | NCBI36 |
NG_006669.1:g.22045C= | |
NG_006669.2:g.24593C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.1137C= | ||
ENST00000647353.1:n.54-4471C= | ||
ENST00000679909.1:c.28+19539C= | ENSP00000506089.1:n.28+19539C= | |
ENST00000453660.3:n.1119C= | ||
ENST00000538324.2:c.1101C= | ENSP00000483018.1:p.Ser367= | |
ENST00000611156.4:c.*43C= | ENSP00000483265.1:n.*43C= | |
NM_020469.2:c.*43C= | NP_065202.2:n.*43C= | |
NM_020469.3:c.*43C= | NP_065202.2:n.*43C= |