Linked Data
ClinVar Variation Id:
1208705
ClinVar RCV Id:
RCV001577120
dbSNP Id:
rs111495739
gnomAD v2:
7-155604884-G-C
gnomAD v3:
7-155812190-G-C
gnomAD v4:
7-155812190-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155812190G>C , CM000669.2:g.155812190G>C | GRCh38 |
| NC_000007.13:g.155604884G>C , CM000669.1:g.155604884G>C | GRCh37 |
| NC_000007.12:g.155297645G>C | NCBI36 |
| NG_007504.2:g.5084C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.-68C>G MANE Select | ENSP00000297261.2:n.-68C>G | |
| ENST00000297261.6:c.-68C>G | ENSP00000297261.2:n.-68C>G | |
| NM_000193.2:c.-68C>G | NP_000184.1:n.-68C>G | |
| NM_000193.3:c.-68C>G | NP_000184.1:n.-68C>G | |
| NM_000193.4:c.-68C>G MANE Select | NP_000184.1:n.-68C>G |