Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535762T>C , CM000663.2:g.1535762T>C | GRCh38 |
| NC_000001.10:g.1471142T>C , CM000663.1:g.1471142T>C | GRCh37 |
| NC_000001.9:g.1461005T>C | NCBI36 |
| NG_041807.1:g.9599A>G | |
| NG_053035.1:g.28620T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.200A>G MANE Select | ENSP00000368007.4:p.Asp67Gly | |
| ENST00000378733.8:c.200A>G | ENSP00000368007.4:p.Asp67Gly | |
| ENST00000425828.1:c.200A>G | ENSP00000400311.1:p.Asp67Gly | |
| NM_001114748.1:c.200A>G | NP_001108220.1:p.Asp67Gly | |
| NM_001114748.2:c.200A>G MANE Select | NP_001108220.1:p.Asp67Gly |