Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703332G>C , CM000677.2:g.66703332G>C | GRCh38 |
| NC_000015.9:g.66995670G>C , CM000677.1:g.66995670G>C | GRCh37 |
| NC_000015.8:g.64782724G>C | NCBI36 |
| NG_012244.1:g.5997G>C | |
| NG_012244.2:g.5997G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.74G>C MANE Select | ENSP00000288840.5:p.Gly25Ala | |
| ENST00000288840.9:c.74G>C | ENSP00000288840.5:p.Gly25Ala | |
| ENST00000557916.5:c.74G>C | ENSP00000452955.1:p.Gly25Ala | |
| ENST00000612349.1:n.256G>C | ||
| NM_005585.4:c.74G>C | NP_005576.3:p.Gly25Ala | |
| NR_027654.1:n.997G>C | ||
| XR_931825.1:n.1233G>C | ||
| XR_931826.1:n.1233G>C | ||
| XR_931827.1:n.1233G>C | ||
| XR_931827.2:n.1223G>C | ||
| NM_005585.5:c.74G>C MANE Select | NP_005576.3:p.Gly25Ala | |
| NR_027654.2:n.1097G>C |