Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142954273T>A , CM000669.2:g.142954273T>A | GRCh38 |
| NC_000007.13:g.142651360T>A , CM000669.1:g.142651360T>A | GRCh37 |
| NC_000007.12:g.142361482T>A | NCBI36 |
| NG_007492.1:g.13144A>T | |
| NG_007492.2:g.13144A>T | |
| NG_007492.3:g.13144A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.835A>T MANE Select | ENSP00000347409.2:p.Thr279Ser | |
| ENST00000355265.6:c.835A>T | ENSP00000347409.2:p.Thr279Ser | |
| ENST00000479768.6:n.953A>T | ||
| NM_000420.2:c.835A>T | NP_000411.1:p.Thr279Ser | |
| XM_005249993.2:c.871A>T | XP_005250050.1:p.Thr291Ser | |
| XM_005249994.3:c.-113A>T | XP_005250051.1:n.-113A>T | |
| NM_000420.3:c.835A>T MANE Select | NP_000411.1:p.Thr279Ser |