Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172333456T>C , CM000667.2:g.172333456T>C | GRCh38 |
| NC_000005.9:g.171760460T>C , CM000667.1:g.171760460T>C | GRCh37 |
| NC_000005.8:g.171693065T>C | NCBI36 |
| NG_027746.1:g.126068A>G | |
| NG_027746.2:g.126068A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636523.1:c.1229-8076A>G | ||
| ENST00000519643.5:c.1189-8076A>G | ENSP00000430890.1:n.1189-8076A>G | |
| NM_001308175.1:c.1189-8076A>G | NP_001295104.1:n.1189-8076A>G | |
| NM_001308175.2:c.1189-8076A>G | NP_001295104.1:n.1189-8076A>G |