HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255876G= , CM000671.2:g.133255876G= | GRCh38 |
NC_000009.11:g.136131263G= , CM000671.1:g.136131263G= | GRCh37 |
NC_000009.10:g.135121084G= | NCBI36 |
NG_006669.1:g.21792C= | |
NG_006669.2:g.24340C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.884C= | ||
ENST00000647353.1:n.54-4724C= | ||
ENST00000679909.1:c.28+19286C= | ENSP00000506089.1:n.28+19286C= | |
ENST00000453660.3:n.866C= | ||
ENST00000538324.2:c.852C= | ENSP00000483018.1:p.His284= | |
ENST00000611156.4:c.852C= | ENSP00000483265.1:p.His284= | |
NM_020469.2:c.855C= | NP_065202.2:p.His285= | |
NM_020469.3:c.855C= | NP_065202.2:p.His285= |