Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133258138A= , CM000671.2:g.133258138A= | GRCh38 |
| NC_000009.11:g.136133528A= , CM000671.1:g.136133528A= | GRCh37 |
| NC_000009.10:g.135123349A= | NCBI36 |
| NG_006669.1:g.19526T= | |
| NG_006669.2:g.22077T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.234-6T= | ||
| ENST00000647353.1:n.54-6986T= | ||
| ENST00000651471.1:n.239-6T= | ||
| ENST00000679909.1:c.28+17024T= | ENSP00000506089.1:n.28+17024T= | |
| ENST00000453660.3:n.216-6T= | ||
| ENST00000538324.2:c.204-6T= | ENSP00000483018.1:n.204-6T= | |
| ENST00000611156.4:c.204-6T= | ENSP00000483265.1:n.204-6T= | |
| NM_020469.2:c.204-6T= | NP_065202.2:n.204-6T= | |
| NM_020469.3:c.204-6T= | NP_065202.2:n.204-6T= |