Linked Data
ClinVar Variation Id:
298250
ClinVar RCV Id:
RCV000261992
RCV000297212
RCV000331144
RCV000356767
RCV000894101
RCV001073731
RCV001096426
dbSNP Id:
rs75267647
ExAC:
1:94505659 C / A
gnomAD v2:
1-94505659-C-A
gnomAD v3:
1-94040103-C-A
gnomAD v4:
1-94040103-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94040103C>A , CM000663.2:g.94040103C>A | GRCh38 |
| NC_000001.10:g.94505659C>A , CM000663.1:g.94505659C>A | GRCh37 |
| NC_000001.9:g.94278247C>A | NCBI36 |
| NG_009073.1:g.86047G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3547G>T MANE Select | ENSP00000359245.3:p.Gly1183Cys | |
| ENST00000370225.3:c.3547G>T | ENSP00000359245.3:p.Gly1183Cys | |
| ENST00000536513.5:c.-64-14G>T | ENSP00000439707.2:n.-64-14G>T | |
| NM_000350.2:c.3547G>T | NP_000341.2:p.Gly1183Cys | |
| NM_000350.3:c.3547G>T MANE Select | NP_000341.2:p.Gly1183Cys |