Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851175A>C , CM000664.2:g.135851175A>C | GRCh38 |
| NC_000002.11:g.136608745A>C , CM000664.1:g.136608745A>C | GRCh37 |
| NC_000002.10:g.136325215A>C | NCBI36 |
| NG_008104.2:g.8995T>G , LRG_338:g.8995T>G | |
| NG_008958.1:g.30267T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005915.6:c.1917+227T>G MANE Select | NP_005906.2:n.1917+227T>G |
| ENST00000264156.3:c.1917+227T>G MANE Select | ENSP00000264156.2:n.1917+227T>G |
| NM_005915.5:c.1917+227T>G | NP_005906.2:n.1917+227T>G |
| ENST00000264156.2:c.1917+227T>G | ENSP00000264156.2:n.1917+227T>G |
| ENST00000483902.1:n.544+227T>G | |
| ENST00000492091.1:n.343+227T>G |