Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133262243T= , CM000671.2:g.133262243T= | GRCh38 |
| NC_000009.11:g.136137646T= , CM000671.1:g.136137646T= | GRCh37 |
| NC_000009.10:g.135127467T= | NCBI36 |
| NG_006669.1:g.15406A= | |
| NG_006669.2:g.17972A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020469.2:c.29-75A= | NP_065202.2:n.29-75A= |
| NM_020469.3:c.29-75A= | NP_065202.2:n.29-75A= |
| ENST00000453660.3:n.41-75A= | |
| ENST00000453660.4:n.59-75A= | |
| ENST00000538324.2:c.29-75A= | ENSP00000483018.1:n.29-75A= |
| ENST00000611156.4:c.29-75A= | ENSP00000483265.1:n.29-75A= |
| ENST00000647353.1:n.54-11091A= | |
| ENST00000651471.1:n.64-75A= | |
| ENST00000679909.1:c.28+12919A= | ENSP00000506089.1:n.28+12919A= |