Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33521807C>G , CM000681.2:g.33521807C>G | GRCh38 |
| NC_000019.9:g.34012713C>G , CM000681.1:g.34012713C>G | GRCh37 |
| NC_000019.8:g.38704553C>G | NCBI36 |
| NG_013358.1:g.5087G>C | |
| NG_013358.2:g.5087G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698361.1:c.-47G>C | ENSP00000513684.1:n.-47G>C | |
| ENST00000698362.1:c.-47G>C | ENSP00000513685.1:n.-47G>C | |
| ENST00000698363.1:n.17G>C | ||
| ENST00000698364.1:n.17G>C | ||
| ENST00000698365.1:n.17G>C | ||
| ENST00000698436.1:c.-47G>C | ENSP00000513720.1:n.-47G>C | |
| NM_000285.3:c.-47G>C | NP_000276.2:n.-47G>C | |
| NM_001166056.1:c.-47G>C | NP_001159528.1:n.-47G>C | |
| NM_001166057.1:c.-47G>C | NP_001159529.1:n.-47G>C |