Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133258026A= , CM000671.2:g.133258026A= | GRCh38 |
| NC_000009.11:g.136133416A= , CM000671.1:g.136133416A= | GRCh37 |
| NC_000009.10:g.135123237A= | NCBI36 |
| NG_006669.1:g.19638T= | |
| NG_006669.2:g.22189T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.269+71T= | ||
| ENST00000647353.1:n.54-6874T= | ||
| ENST00000651471.1:n.329+16T= | ||
| ENST00000679909.1:c.28+17136T= | ENSP00000506089.1:n.28+17136T= | |
| ENST00000453660.3:n.251+71T= | ||
| ENST00000538324.2:c.239+71T= | ENSP00000483018.1:n.239+71T= | |
| ENST00000611156.4:c.239+71T= | ENSP00000483265.1:n.239+71T= | |
| NM_020469.2:c.239+71T= | NP_065202.2:n.239+71T= | |
| NM_020469.3:c.239+71T= | NP_065202.2:n.239+71T= |