Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96160228A>C , CM000670.2:g.96160228A>C | GRCh38 |
| NC_000008.10:g.97172456A>C , CM000670.1:g.97172456A>C | GRCh37 |
| NC_000008.9:g.97241632A>C | NCBI36 |
| NG_008981.1:g.5565T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.406+59T>G MANE Select | ENSP00000287020.4:n.406+59T>G | |
| ENST00000287020.6:c.406+59T>G | ENSP00000287020.4:n.406+59T>G | |
| ENST00000620978.1:c.406+59T>G | ENSP00000480170.1:n.406+59T>G | |
| ENST00000621429.1:c.406+59T>G | ENSP00000483711.1:n.406+59T>G | |
| NM_001001557.2:c.406+59T>G | NP_001001557.1:n.406+59T>G | |
| NM_001001557.3:c.406+59T>G | NP_001001557.1:n.406+59T>G | |
| NM_001001557.4:c.406+59T>G MANE Select | NP_001001557.1:n.406+59T>G |