Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130597A>T , CM000676.2:g.50130597A>T | GRCh38 |
| NC_000014.8:g.50597315A>T , CM000676.1:g.50597315A>T | GRCh37 |
| NC_000014.7:g.49667065A>T | NCBI36 |
| NG_051073.1:g.106097T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3241T>A MANE Select | ENSP00000216373.5:p.Ser1081Thr | |
| ENST00000216373.9:c.3241T>A | ENSP00000216373.5:p.Ser1081Thr | |
| ENST00000543680.5:c.3142T>A | ENSP00000445328.1:p.Ser1048Thr | |
| NM_006939.2:c.3241T>A | NP_008870.2:p.Ser1081Thr | |
| XM_005268021.1:c.3061T>A | XP_005268078.1:p.Ser1021Thr | |
| XM_011537103.1:c.3202T>A | XP_011535405.1:p.Ser1068Thr | |
| NM_006939.3:c.3241T>A | NP_008870.2:p.Ser1081Thr | |
| NM_006939.4:c.3241T>A MANE Select | NP_008870.2:p.Ser1081Thr |