Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257168A= , CM000671.2:g.133257168A= | GRCh38 |
| NC_000009.11:g.136132555A= , CM000671.1:g.136132555A= | GRCh37 |
| NC_000009.10:g.135122376A= | NCBI36 |
| NG_006669.1:g.20500T= | |
| NG_006669.2:g.23048T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.403+241T= | ||
| ENST00000647353.1:n.54-6016T= | ||
| ENST00000651471.1:n.330-812T= | ||
| ENST00000679909.1:c.28+17994T= | ENSP00000506089.1:n.28+17994T= | |
| ENST00000453660.3:n.385+241T= | ||
| ENST00000538324.2:c.371+241T= | ENSP00000483018.1:n.371+241T= | |
| ENST00000611156.4:c.371+241T= | ENSP00000483265.1:n.371+241T= | |
| NM_020469.2:c.374+241T= | NP_065202.2:n.374+241T= | |
| NM_020469.3:c.374+241T= | NP_065202.2:n.374+241T= |