Linked Data
ClinVar Variation Id:
1042106
ClinVar RCV Id:
RCV001346007
dbSNP Id:
rs376802160
ExAC:
3:129251264 G / C
gnomAD v2:
3-129251264-G-C
gnomAD v3:
3-129532421-G-C
gnomAD v4:
3-129532421-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532421G>C , CM000665.2:g.129532421G>C | GRCh38 |
| NC_000003.11:g.129251264G>C , CM000665.1:g.129251264G>C | GRCh37 |
| NC_000003.10:g.130733954G>C | NCBI36 |
| NG_009115.1:g.8783G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.696+5G>C MANE Select | ENSP00000296271.3:n.696+5G>C | |
| ENST00000296271.3:c.696+5G>C | ENSP00000296271.3:n.696+5G>C | |
| NM_000539.3:c.696+5G>C MANE Select | NP_000530.1:n.696+5G>C |