Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765009A>C , CM000674.2:g.57765009A>C | GRCh38 |
| NC_000012.11:g.58158792A>C , CM000674.1:g.58158792A>C | GRCh37 |
| NC_000012.10:g.56445059A>C | NCBI36 |
| NG_007076.1:g.7185T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.871+2T>G | ENSP00000518840.1:n.871+2T>G | |
| ENST00000713545.1:c.848+2T>G | ENSP00000518841.1:n.848+2T>G | |
| ENST00000228606.9:c.790+2T>G MANE Select | ENSP00000228606.4:n.790+2T>G | |
| ENST00000228606.8:c.790+2T>G | ENSP00000228606.4:n.790+2T>G | |
| ENST00000546567.5:c.85+2T>G | ENSP00000449472.1:n.85+2T>G | |
| ENST00000547344.5:n.929+2T>G | ||
| ENST00000547451.1:n.590+2T>G | ||
| NM_000785.3:c.790+2T>G | NP_000776.1:n.790+2T>G | |
| NM_000785.4:c.790+2T>G MANE Select | NP_000776.1:n.790+2T>G |