Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.105261413C>T , CM000664.2:g.105261413C>T | GRCh38 |
| NC_000002.11:g.105877870C>T , CM000664.1:g.105877870C>T | GRCh37 |
| NC_000002.10:g.105244302C>T | NCBI36 |
| NG_050952.1:g.73302G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001328646.1:c.2406+7859G>A | NP_001315575.1:n.2406+7859G>A |
| NM_001328646.2:c.2406+7859G>A | NP_001315575.1:n.2406+7859G>A |
| NM_001328646.3:c.2406+7859G>A | NP_001315575.1:n.2406+7859G>A |
| XM_011512193.1:c.2406+7859G>A | XP_011510495.1:n.2406+7859G>A |