Linked Data
dbSNP Id:
rs1343108906
gnomAD v2:
7-87230263-G-C
gnomAD v3:
7-87600947-G-C
gnomAD v4:
7-87600947-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87600947G>C , CM000669.2:g.87600947G>C | GRCh38 |
| NC_000007.13:g.87230263G>C , CM000669.1:g.87230263G>C | GRCh37 |
| NC_000007.12:g.87068199G>C | NCBI36 |
| NG_011513.1:g.117302C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.-199C>G | ENSP00000265724.3:n.-199C>G | |
| ENST00000265724.7:c.-199C>G | ENSP00000265724.3:n.-199C>G | |
| ENST00000416177.1:c.-78+26C>G | ENSP00000399419.1:n.-78+26C>G | |
| ENST00000476862.1:n.448C>G | ||
| ENST00000543898.5:c.-199C>G | ENSP00000444095.1:n.-199C>G | |
| ENST00000622132.4:c.-199C>G | ENSP00000478255.1:n.-199C>G | |
| NM_000927.4:c.-199C>G | NP_000918.2:n.-199C>G | |
| NM_001348944.1:c.-78+26C>G | NP_001335873.1:n.-78+26C>G | |
| NM_001348945.1:c.133+26C>G | NP_001335874.1:n.133+26C>G | |
| NM_000927.5:c.-199C>G | NP_000918.2:n.-199C>G | |
| NM_001348944.2:c.-78+26C>G | NP_001335873.1:n.-78+26C>G | |
| NM_001348945.2:c.133+26C>G | NP_001335874.1:n.133+26C>G |