Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454906T>C , CM000676.2:g.20454906T>C | GRCh38 |
| NC_000014.8:g.20923065T>C , CM000676.1:g.20923065T>C | GRCh37 |
| NC_000014.7:g.19992905T>C | NCBI36 |
| NG_008718.1:g.4776T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.8:c.-223A>G | ENSP00000206542.4:n.-223A>G | |
| ENST00000556252.1:n.148A>G | ||
| ENST00000556439.1:n.184A>G | ||
| NM_017807.3:c.-223A>G | NP_060277.1:n.-223A>G | |
| XM_011536930.1:c.-284A>G | XP_011535232.1:n.-284A>G |