Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14207518A>G , CM000679.2:g.14207518A>G | GRCh38 |
| NC_000017.10:g.14110835A>G , CM000679.1:g.14110835A>G | GRCh37 |
| NC_000017.9:g.14051560A>G | NCBI36 |
| NG_008034.1:g.143117A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001303.4:c.*305A>G MANE Select | NP_001294.2:n.*305A>G |
| ENST00000261643.8:c.*305A>G MANE Select | ENSP00000261643.3:n.*305A>G |
| NM_001303.3:c.*305A>G | NP_001294.2:n.*305A>G |
| ENST00000261643.7:c.*305A>G | ENSP00000261643.3:n.*305A>G |
| ENST00000580561.1:c.*1126A>G | ENSP00000462190.1:n.*1126A>G |
| ENST00000664217.1:c.*55+250A>G | ENSP00000499396.1:n.*55+250A>G |
| ENST00000670279.1:c.929-1991A>G | ENSP00000499450.1:n.929-1991A>G |
| XM_011523658.1:c.*305A>G | XP_011521960.1:n.*305A>G |
| XR_933974.1:n.1032-1991A>G |