Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257527G= , CM000671.2:g.133257527G= | GRCh38 |
| NC_000009.11:g.136132914G= , CM000671.1:g.136132914G= | GRCh37 |
| NC_000009.10:g.135122735G= | NCBI36 |
| NG_006669.1:g.20140C= | |
| NG_006669.2:g.22688C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.285C= | ||
| ENST00000647353.1:n.54-6375C= | ||
| ENST00000651471.1:n.329+515C= | ||
| ENST00000679909.1:c.28+17635C= | ENSP00000506089.1:n.28+17635C= | |
| ENST00000453660.3:n.267C= | ||
| ENST00000538324.2:c.255C= | ENSP00000483018.1:p.Leu85= | |
| ENST00000611156.4:c.255C= | ENSP00000483265.1:p.Leu85= | |
| NM_020469.2:c.255C= | NP_065202.2:p.Leu85= | |
| NM_020469.3:c.255C= | NP_065202.2:p.Leu85= |