Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351613G>A , CM000679.2:g.44351613G>A | GRCh38 |
| NC_000017.10:g.42428981G>A , CM000679.1:g.42428981G>A | GRCh37 |
| NC_000017.9:g.39784507G>A | NCBI36 |
| NG_007886.1:g.11491G>A , LRG_661:g.11491G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.997G>A MANE Select | ENSP00000053867.2:p.Gly333Ser | |
| ENST00000639447.1:c.997G>A | ENSP00000492014.1:p.Gly333Ser | |
| ENST00000053867.7:c.997G>A | ENSP00000053867.2:p.Gly333Ser | |
| ENST00000586443.1:c.438G>A | ||
| ENST00000589265.5:c.526G>A | ENSP00000467616.1:p.Gly176Ser | |
| ENST00000589923.1:n.255G>A | ||
| NM_002087.3:c.997G>A | NP_002078.1:p.Gly333Ser | |
| XM_005257253.1:c.997G>A | XP_005257310.1:p.Gly333Ser | |
| XM_024450730.1:c.997G>A | XP_024306498.1:p.Gly333Ser | |
| NM_002087.4:c.997G>A MANE Select | NP_002078.1:p.Gly333Ser |