Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255809T= , CM000671.2:g.133255809T= | GRCh38 |
| NC_000009.11:g.136131196T= , CM000671.1:g.136131196T= | GRCh37 |
| NC_000009.10:g.135121017T= | NCBI36 |
| NG_006669.1:g.21859A= | |
| NG_006669.2:g.24407A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.951A= | ||
| ENST00000647353.1:n.54-4657A= | ||
| ENST00000679909.1:c.28+19353A= | ENSP00000506089.1:n.28+19353A= | |
| ENST00000453660.3:n.933A= | ||
| ENST00000538324.2:c.919A= | ENSP00000483018.1:p.Lys307= | |
| ENST00000611156.4:c.919A= | ENSP00000483265.1:p.Lys307= | |
| NM_020469.2:c.922A= | NP_065202.2:p.Lys308= | |
| NM_020469.3:c.922A= | NP_065202.2:p.Lys308= |