Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644365G>A , CM000671.2:g.133644365G>A | GRCh38 |
| NC_000009.11:g.136509487G>A , CM000671.1:g.136509487G>A | GRCh37 |
| NC_000009.10:g.135499308G>A | NCBI36 |
| NG_008645.1:g.13003G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.1024+45G>A MANE Select | ENSP00000376776.2:n.1024+45G>A | |
| ENST00000393056.6:c.1024+45G>A | ENSP00000376776.2:n.1024+45G>A | |
| NM_000787.3:c.1024+45G>A | NP_000778.3:n.1024+45G>A | |
| NM_000787.4:c.1024+45G>A MANE Select | NP_000778.3:n.1024+45G>A |