Linked Data
ClinVar Variation Id:
193628
dbSNP Id:
rs192628905
ExAC:
16:57993919 T / A
gnomAD v2:
16-57993919-T-A
gnomAD v3:
16-57960015-T-A
gnomAD v4:
16-57960015-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57960015T>A , CM000678.2:g.57960015T>A | GRCh38 |
| NC_000016.9:g.57993919T>A , CM000678.1:g.57993919T>A | GRCh37 |
| NC_000016.8:g.56551420T>A | NCBI36 |
| NG_016351.1:g.16102A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.634A>T MANE Select | ENSP00000251102.8:p.Thr212Ser | |
| ENST00000251102.12:c.634A>T | ENSP00000251102.8:p.Thr212Ser | |
| ENST00000311183.8:c.634A>T | ENSP00000311670.4:p.Thr212Ser | |
| ENST00000562761.1:c.634A>T | ENSP00000455708.1:p.Thr212Ser | |
| ENST00000564448.5:c.616A>T | ENSP00000454633.1:p.Thr206Ser | |
| NM_001135639.1:c.634A>T | NP_001129111.1:p.Thr212Ser | |
| NM_001286130.1:c.616A>T | NP_001273059.1:p.Thr206Ser | |
| NM_001297.4:c.634A>T | NP_001288.3:p.Thr212Ser | |
| XM_006721134.2:c.634A>T | XP_006721197.1:p.Thr212Ser | |
| NM_001135639.2:c.634A>T | NP_001129111.1:p.Thr212Ser | |
| NM_001286130.2:c.616A>T | NP_001273059.1:p.Thr206Ser | |
| NM_001297.5:c.634A>T MANE Select | NP_001288.3:p.Thr212Ser |