Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213548G>C , CM000667.2:g.1213548G>C | GRCh38 |
| NC_000005.9:g.1213663G>C , CM000667.1:g.1213663G>C | GRCh37 |
| NC_000005.8:g.1266663G>C | NCBI36 |
| NG_008282.1:g.16954G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.749G>C MANE Select | ENSP00000305302.10:p.Gly250Ala | |
| ENST00000304460.10:c.749G>C | ENSP00000305302.10:p.Gly250Ala | |
| ENST00000515652.5:c.657G>C | ENSP00000425701.1:p.Trp219Cys | |
| NM_001003841.2:c.749G>C | NP_001003841.1:p.Gly250Ala | |
| NM_001003841.3:c.749G>C MANE Select | NP_001003841.1:p.Gly250Ala |