Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920136A>T , CM000679.2:g.74920136A>T | GRCh38 |
| NC_000017.10:g.72916231A>T , CM000679.1:g.72916231A>T | GRCh37 |
| NC_000017.9:g.70427826A>T | NCBI36 |
| NG_007882.1:g.8121T>A | |
| NG_033062.1:g.862A>T | |
| NG_007882.2:g.8128T>A | |
| NG_033062.2:g.862A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.700T>A MANE Select | ENSP00000480279.1:p.Ser234Thr | |
| ENST00000579243.1:c.*299T>A | ENSP00000462568.1:n.*299T>A | |
| ENST00000614341.4:c.700T>A | ENSP00000480279.1:p.Ser234Thr | |
| NM_001282489.2:c.391T>A | NP_001269418.1:p.Ser131Thr | |
| NM_173477.4:c.700T>A | NP_775748.2:p.Ser234Thr | |
| XM_011524296.1:c.391T>A | XP_011522598.1:p.Ser131Thr | |
| XM_011524296.2:c.391T>A | XP_011522598.1:p.Ser131Thr | |
| NM_173477.5:c.700T>A MANE Select | NP_775748.2:p.Ser234Thr | |
| NM_001282489.3:c.391T>A | NP_001269418.1:p.Ser131Thr |