Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48755767A>C , CM000664.2:g.48755767A>C | GRCh38 |
| NC_000002.11:g.48982906A>C , CM000664.1:g.48982906A>C | GRCh37 |
| NC_000002.10:g.48836410A>C | NCBI36 |
| NG_008193.1:g.4975T>G | |
| NG_033050.1:g.230843A>C | |
| NG_008193.2:g.4975T>G | |
| NG_033050.2:g.230843A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402114.6:c.3442-20513A>C | ENSP00000385701.1:n.3442-20513A>C | |
| NM_001198593.1:c.3442-20513A>C | NP_001185522.1:n.3442-20513A>C | |
| NM_001198593.2:c.3442-20513A>C | NP_001185522.1:n.3442-20513A>C |