Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89350778C>T , CM000674.2:g.89350778C>T | GRCh38 |
| NC_000012.11:g.89744555C>T , CM000674.1:g.89744555C>T | GRCh37 |
| NC_000012.10:g.88268686C>T | NCBI36 |
| NG_033915.1:g.7082G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279488.8:c.648G>A MANE Select | ENSP00000279488.6:p.Leu216= | |
| ENST00000279488.7:c.648G>A | ENSP00000279488.6:p.Leu216= | |
| ENST00000308385.6:c.400+862G>A | ENSP00000307835.6:n.400+862G>A | |
| ENST00000547140.1:n.334G>A | ||
| ENST00000547291.1:c.273G>A | ENSP00000449838.1:p.Leu91= | |
| NM_001946.3:c.648G>A | NP_001937.2:p.Leu216= | |
| NM_022652.3:c.400+862G>A | NP_073143.2:n.400+862G>A | |
| NM_001946.4:c.648G>A MANE Select | NP_001937.2:p.Leu216= | |
| NM_022652.4:c.400+862G>A | NP_073143.2:n.400+862G>A |