Linked Data
ClinVar Variation Id:
729090
ClinVar RCV Id:
RCV000903685
dbSNP Id:
rs55950599
ExAC:
3:165548806 T / A
gnomAD v2:
3-165548806-T-A
gnomAD v3:
3-165831018-T-A
gnomAD v4:
3-165831018-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165831018T>A , CM000665.2:g.165831018T>A | GRCh38 |
| NC_000003.11:g.165548806T>A , CM000665.1:g.165548806T>A | GRCh37 |
| NC_000003.10:g.167031500T>A | NCBI36 |
| NG_009031.1:g.11448A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.16A>T MANE Select | ENSP00000264381.3:p.Thr6Ser | |
| ENST00000264381.7:c.16A>T | ENSP00000264381.3:p.Thr6Ser | |
| ENST00000479451.5:c.107+6296A>T | ENSP00000418325.1:n.107+6296A>T | |
| ENST00000482958.1:c.16A>T | ENSP00000419804.1:p.Thr6Ser | |
| ENST00000488954.1:c.107+6296A>T | ENSP00000418504.1:n.107+6296A>T | |
| ENST00000497011.5:c.16A>T | ENSP00000419505.1:p.Thr6Ser | |
| NM_000055.2:c.16A>T | NP_000046.1:p.Thr6Ser | |
| XM_005247685.1:c.139A>T | XP_005247742.1:p.Thr47Ser | |
| NM_000055.3:c.16A>T | NP_000046.1:p.Thr6Ser | |
| NR_137635.1:n.159+6296A>T | ||
| NR_137636.1:n.183A>T | ||
| NM_000055.4:c.16A>T MANE Select | NP_000046.1:p.Thr6Ser | |
| NR_137635.2:n.110+6296A>T | ||
| NR_137636.2:n.134A>T |