Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91273440T>A , CM000676.2:g.91273440T>A | GRCh38 |
| NC_000014.8:g.91739784T>A , CM000676.1:g.91739784T>A | GRCh37 |
| NC_000014.7:g.90809537T>A | NCBI36 |
| NG_033118.1:g.149405A>T | |
| NG_033118.2:g.149405A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5272A>T MANE Select | ENSP00000374507.6:p.Thr1758Ser | |
| ENST00000331194.8:c.844A>T | ENSP00000330332.8:p.Thr282Ser | |
| ENST00000389857.10:c.5272A>T | ENSP00000374507.6:p.Thr1758Ser | |
| ENST00000556726.5:c.1500A>T | ||
| NM_001080414.3:c.5272A>T | NP_001073883.2:p.Thr1758Ser | |
| XM_011536796.1:c.5164A>T | XP_011535098.1:p.Thr1722Ser | |
| XM_011536796.2:c.5164A>T | XP_011535098.1:p.Thr1722Ser | |
| XM_017021336.1:c.2353A>T | XP_016876825.1:p.Thr785Ser | |
| NM_001080414.4:c.5272A>T MANE Select | NP_001073883.2:p.Thr1758Ser |