Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89351239C>T , CM000674.2:g.89351239C>T | GRCh38 |
| NC_000012.11:g.89745016C>T , CM000674.1:g.89745016C>T | GRCh37 |
| NC_000012.10:g.88269147C>T | NCBI36 |
| NG_033915.1:g.6621G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001946.4:c.401-214G>A MANE Select | NP_001937.2:n.401-214G>A |
| ENST00000279488.8:c.401-214G>A MANE Select | ENSP00000279488.6:n.401-214G>A |
| NM_001946.3:c.401-214G>A | NP_001937.2:n.401-214G>A |
| NM_022652.3:c.400+401G>A | NP_073143.2:n.400+401G>A |
| NM_022652.4:c.400+401G>A | NP_073143.2:n.400+401G>A |
| ENST00000279488.7:c.401-214G>A | ENSP00000279488.6:n.401-214G>A |
| ENST00000308385.6:c.400+401G>A | ENSP00000307835.6:n.400+401G>A |
| ENST00000547140.1:n.87-214G>A |