Linked Data
ClinVar Variation Id:
2330161
ClinVar RCV Id:
RCV004176658
dbSNP Id:
rs764605454
ExAC:
4:135121484 C / A
gnomAD v2:
4-135121484-C-A
gnomAD v4:
4-134200329-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134200329C>A , CM000666.2:g.134200329C>A | GRCh38 |
| NC_000004.11:g.135121484C>A , CM000666.1:g.135121484C>A | GRCh37 |
| NC_000004.10:g.135340934C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421491.4:c.691G>T MANE Select | ENSP00000463233.1:p.Gly231Cys | |
| ENST00000421491.3:c.691G>T | ENSP00000463233.1:p.Gly231Cys | |
| NM_001114734.1:c.865G>T | NP_001108206.2:p.Gly289Cys | |
| NM_001114734.2:c.691G>T MANE Select | NP_001108206.3:p.Gly231Cys | |
| NM_001363585.1:c.691G>T | NP_001350514.1:p.Gly231Cys | |
| XR_001741133.1:n.1230G>T | ||
| XR_001741134.1:n.1230G>T | ||
| XR_001741135.1:n.1230G>T | ||
| XR_001741136.1:n.1230G>T | ||
| XR_001741137.1:n.1230G>T | ||
| XR_001741138.1:n.1230G>T | ||
| XR_001741139.1:n.1225G>T |