Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255684C= , CM000671.2:g.133255684C= | GRCh38 |
| NC_000009.11:g.136131071C= , CM000671.1:g.136131071C= | GRCh37 |
| NC_000009.10:g.135120892C= | NCBI36 |
| NG_006669.1:g.21984G= | |
| NG_006669.2:g.24532G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1076G= | ||
| ENST00000647353.1:n.54-4532G= | ||
| ENST00000679909.1:c.28+19478G= | ENSP00000506089.1:n.28+19478G= | |
| ENST00000453660.3:n.1058G= | ||
| ENST00000538324.2:c.1044G= | ENSP00000483018.1:p.Gln348= | |
| ENST00000611156.4:c.1044G= | ENSP00000483265.1:p.Gln348= | |
| NM_020469.2:c.1047G= | NP_065202.2:p.Gln349= | |
| NM_020469.3:c.1047G= | NP_065202.2:p.Gln349= |