Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91968833T>C , CM000676.2:g.91968833T>C | GRCh38 |
| NC_000014.8:g.92435177T>C , CM000676.1:g.92435177T>C | GRCh37 |
| NC_000014.7:g.91504930T>C | NCBI36 |
| NG_016970.1:g.76227A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004239.4:c.*840A>G MANE Select | NP_004230.2:n.*840A>G |
| ENST00000267622.8:c.*840A>G MANE Select | ENSP00000267622.4:n.*840A>G |
| NM_001321851.1:c.*840A>G | NP_001308780.1:n.*840A>G |
| NM_004239.3:c.*840A>G | NP_004230.2:n.*840A>G |
| XM_005268214.2:c.*840A>G | XP_005268271.1:n.*840A>G |
| XM_005268215.2:c.*840A>G | XP_005268272.1:n.*840A>G |
| XM_006720321.2:c.*840A>G | XP_006720384.1:n.*840A>G |
| XM_017021787.2:c.*840A>G | XP_016877276.1:n.*840A>G |
| XM_017021788.2:c.*840A>G | XP_016877277.1:n.*840A>G |