Linked Data
ClinVar Variation Id:
1062491
ClinVar RCV Id:
RCV001372215
dbSNP Id:
rs1205548762
gnomAD v2:
X-153001640-A-T
gnomAD v3:
X-153736186-A-T
gnomAD v4:
X-153736186-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736186A>T , CM000685.2:g.153736186A>T | GRCh38 |
| NC_000023.10:g.153001640A>T , CM000685.1:g.153001640A>T | GRCh37 |
| NC_000023.9:g.152654834A>T | NCBI36 |
| NG_009022.2:g.16319A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1156A>T MANE Select | ENSP00000218104.3:p.Thr386Ser | |
| ENST00000218104.5:c.1156A>T | ENSP00000218104.3:p.Thr386Ser | |
| ENST00000443684.2:n.159A>T | ||
| NM_000033.3:c.1156A>T | NP_000024.2:p.Thr386Ser | |
| XR_938507.1:n.1572A>T | ||
| XR_938507.2:n.1572A>T | ||
| NM_000033.4:c.1156A>T MANE Select | NP_000024.2:p.Thr386Ser |