Linked Data
ClinVar Variation Id:
1327022
ClinVar RCV Id:
RCV001788903
dbSNP Id:
rs1048575
ExAC:
1:77558057 G / C
gnomAD v2:
1-77558057-G-C
gnomAD v3:
1-77092372-G-C
gnomAD v4:
1-77092372-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77092372G>C , CM000663.2:g.77092372G>C | GRCh38 |
| NC_000001.10:g.77558057G>C , CM000663.1:g.77558057G>C | GRCh37 |
| NC_000001.9:g.77330645G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370812.8:c.*2C>G MANE Select | ENSP00000359848.3:n.*2C>G | |
| ENST00000370812.7:c.*2C>G | ENSP00000359848.3:n.*2C>G | |
| ENST00000445065.5:c.*2C>G | ENSP00000388854.1:n.*2C>G | |
| ENST00000487906.5:c.763C>G | ENSP00000474518.1:n.763C>G | |
| NM_005482.2:c.*2C>G | NP_005473.1:n.*2C>G | |
| NM_005482.3:c.*2C>G MANE Select | NP_005473.1:n.*2C>G |