Linked Data
ClinVar Variation Id:
3207846
ClinVar RCV Id:
RCV004497688
dbSNP Id:
rs775758642
gnomAD v2:
4-135121468-C-G
gnomAD v3:
4-134200313-C-G
gnomAD v4:
4-134200313-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134200313C>G , CM000666.2:g.134200313C>G | GRCh38 |
| NC_000004.11:g.135121468C>G , CM000666.1:g.135121468C>G | GRCh37 |
| NC_000004.10:g.135340918C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421491.4:c.707G>C MANE Select | ENSP00000463233.1:p.Ser236Thr | |
| ENST00000421491.3:c.707G>C | ENSP00000463233.1:p.Ser236Thr | |
| NM_001114734.1:c.881G>C | NP_001108206.2:p.Ser294Thr | |
| NM_001114734.2:c.707G>C MANE Select | NP_001108206.3:p.Ser236Thr | |
| NM_001363585.1:c.707G>C | NP_001350514.1:p.Ser236Thr | |
| XR_001741133.1:n.1246G>C | ||
| XR_001741134.1:n.1246G>C | ||
| XR_001741135.1:n.1246G>C | ||
| XR_001741136.1:n.1246G>C | ||
| XR_001741137.1:n.1246G>C | ||
| XR_001741138.1:n.1246G>C | ||
| XR_001741139.1:n.1241G>C |