Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3155636T>C , CM000668.2:g.3155636T>C | GRCh38 |
| NC_000006.11:g.3155870T>C , CM000668.1:g.3155870T>C | GRCh37 |
| NC_000006.10:g.3100869T>C | NCBI36 |
| NG_042223.1:g.6914A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001069.3:c.266A>G MANE Select | NP_001060.1:p.Asn89Ser |
| ENST00000333628.4:c.266A>G MANE Select | ENSP00000369703.2:p.Asn89Ser |
| NM_001069.2:c.266A>G | NP_001060.1:p.Asn89Ser |
| NM_001310315.1:c.-122A>G | NP_001297244.1:n.-122A>G |
| NM_001310315.2:c.-122A>G | NP_001297244.1:n.-122A>G |
| ENST00000333628.3:c.266A>G | ENSP00000369703.2:p.Asn89Ser |
| ENST00000489942.1:n.329A>G | |
| ENST00000679400.1:n.322A>G | |
| ENST00000679907.1:n.654A>G | |
| ENST00000680036.1:n.347A>G | |
| ENST00000680967.1:n.655A>G |