Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621884T>C , CM000676.2:g.49621884T>C | GRCh38 |
| NC_000014.8:g.50088602T>C , CM000676.1:g.50088602T>C | GRCh37 |
| NC_000014.7:g.49158352T>C | NCBI36 |
| NG_008920.1:g.6114T>C | |
| NG_033054.1:g.3748A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305386.4:c.616T>C MANE Select | ENSP00000307423.2:p.Leu206= | |
| ENST00000305386.3:c.616T>C | ENSP00000307423.2:p.Leu206= | |
| NM_002408.3:c.616T>C | NP_002399.1:p.Leu206= | |
| NM_002408.4:c.616T>C MANE Select | NP_002399.1:p.Leu206= |