Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535687A>C , CM000663.2:g.1535687A>C | GRCh38 |
| NC_000001.10:g.1471067A>C , CM000663.1:g.1471067A>C | GRCh37 |
| NC_000001.9:g.1460930A>C | NCBI36 |
| NG_041807.1:g.9674T>G | |
| NG_053035.1:g.28545A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.275T>G MANE Select | ENSP00000368007.4:p.Leu92Arg | |
| ENST00000378733.8:c.275T>G | ENSP00000368007.4:p.Leu92Arg | |
| ENST00000425828.1:c.275T>G | ENSP00000400311.1:p.Leu92Arg | |
| NM_001114748.1:c.275T>G | NP_001108220.1:p.Leu92Arg | |
| NM_001114748.2:c.275T>G MANE Select | NP_001108220.1:p.Leu92Arg |