Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89350778C>G , CM000674.2:g.89350778C>G | GRCh38 |
| NC_000012.11:g.89744555C>G , CM000674.1:g.89744555C>G | GRCh37 |
| NC_000012.10:g.88268686C>G | NCBI36 |
| NG_033915.1:g.7082G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279488.8:c.648G>C MANE Select | ENSP00000279488.6:p.Leu216Phe | |
| ENST00000279488.7:c.648G>C | ENSP00000279488.6:p.Leu216Phe | |
| ENST00000308385.6:c.400+862G>C | ENSP00000307835.6:n.400+862G>C | |
| ENST00000547140.1:n.334G>C | ||
| ENST00000547291.1:c.273G>C | ENSP00000449838.1:p.Leu91Phe | |
| NM_001946.3:c.648G>C | NP_001937.2:p.Leu216Phe | |
| NM_022652.3:c.400+862G>C | NP_073143.2:n.400+862G>C | |
| NM_001946.4:c.648G>C MANE Select | NP_001937.2:p.Leu216Phe | |
| NM_022652.4:c.400+862G>C | NP_073143.2:n.400+862G>C |