Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172333455A>G , CM000667.2:g.172333455A>G | GRCh38 |
| NC_000005.9:g.171760459A>G , CM000667.1:g.171760459A>G | GRCh37 |
| NC_000005.8:g.171693064A>G | NCBI36 |
| NG_027746.1:g.126069T>C | |
| NG_027746.2:g.126069T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636523.1:c.1229-8075T>C | ||
| ENST00000519643.5:c.1189-8075T>C | ENSP00000430890.1:n.1189-8075T>C | |
| NM_001308175.1:c.1189-8075T>C | NP_001295104.1:n.1189-8075T>C | |
| NM_001308175.2:c.1189-8075T>C | NP_001295104.1:n.1189-8075T>C |