Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17392873T>C , CM000673.2:g.17392873T>C | GRCh38 |
| NC_000011.9:g.17414420T>C , CM000673.1:g.17414420T>C | GRCh37 |
| NC_000011.8:g.17370996T>C | NCBI36 |
| NG_008867.1:g.89030A>G | |
| NG_012446.1:g.787A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001287174.2:c.*118A>G | NP_001274103.1:n.*118A>G |
| NM_001351295.2:c.*118A>G | NP_001338224.1:n.*118A>G |
| NM_001351296.2:c.*118A>G | NP_001338225.1:n.*118A>G |
| NM_001351297.2:c.*118A>G | NP_001338226.1:n.*118A>G |
| NR_147094.2:n.5159A>G | |
| ENST00000643562.1:c.*2986A>G | ENSP00000496124.1:n.*2986A>G |
| ENST00000644772.1:c.*118A>G | ENSP00000494321.1:n.*118A>G |