Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67186554A>T , CM000678.2:g.67186554A>T | GRCh38 |
| NC_000016.9:g.67220457A>T , CM000678.1:g.67220457A>T | GRCh37 |
| NC_000016.8:g.65777958A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178516.4:c.1385+3T>A MANE Select | NP_848611.2:n.1385+3T>A |
| ENST00000314586.11:c.1385+3T>A MANE Select | ENSP00000325674.6:n.1385+3T>A |
| NM_178516.3:c.1385+3T>A | NP_848611.2:n.1385+3T>A |
| ENST00000314586.10:c.1385+3T>A | ENSP00000325674.6:n.1385+3T>A |
| ENST00000545725.6:c.1076+3T>A | ENSP00000439910.2:n.1076+3T>A |
| ENST00000563889.1:c.1091+3T>A | ENSP00000455223.1:n.1091+3T>A |
| ENST00000564324.5:c.*309+3T>A | ENSP00000456435.1:n.*309+3T>A |