Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48755761T>G , CM000664.2:g.48755761T>G | GRCh38 |
| NC_000002.11:g.48982900T>G , CM000664.1:g.48982900T>G | GRCh37 |
| NC_000002.10:g.48836404T>G | NCBI36 |
| NG_008193.1:g.4981A>C | |
| NG_033050.1:g.230837T>G | |
| NG_008193.2:g.4981A>C | |
| NG_033050.2:g.230837T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402114.6:c.3442-20519T>G | ENSP00000385701.1:n.3442-20519T>G | |
| NM_001198593.1:c.3442-20519T>G | NP_001185522.1:n.3442-20519T>G | |
| NM_001198593.2:c.3442-20519T>G | NP_001185522.1:n.3442-20519T>G |