HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255909C= , CM000671.2:g.133255909C= | GRCh38 |
NC_000009.11:g.136131296C= , CM000671.1:g.136131296C= | GRCh37 |
NC_000009.10:g.135121117C= | NCBI36 |
NG_006669.1:g.21759G= | |
NG_006669.2:g.24307G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.851G= | ||
ENST00000647353.1:n.54-4757G= | ||
ENST00000679909.1:c.28+19253G= | ENSP00000506089.1:n.28+19253G= | |
ENST00000453660.3:n.833G= | ||
ENST00000538324.2:c.819G= | ENSP00000483018.1:p.Val273= | |
ENST00000611156.4:c.819G= | ENSP00000483265.1:p.Val273= | |
NM_020469.2:c.822G= | NP_065202.2:p.Val274= | |
NM_020469.3:c.822G= | NP_065202.2:p.Val274= |