Linked Data
ClinVar Variation Id:
1806381
ClinVar RCV Id:
RCV002470665
dbSNP Id:
rs888879704
gnomAD v2:
7-19156745-C-G
gnomAD v3:
7-19117122-C-G
gnomAD v4:
7-19117122-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117122C>G , CM000669.2:g.19117122C>G | GRCh38 |
| NC_000007.13:g.19156745C>G , CM000669.1:g.19156745C>G | GRCh37 |
| NC_000007.12:g.19123270C>G | NCBI36 |
| NG_008114.1:g.5551G>C | |
| NG_008114.2:g.5551G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.200G>C MANE Select | ENSP00000242261.5:p.Gly67Ala | |
| ENST00000242261.5:c.200G>C | ENSP00000242261.5:p.Gly67Ala | |
| NM_000474.3:c.200G>C | NP_000465.1:p.Gly67Ala | |
| XM_011515496.1:c.200G>C | XP_011513798.1:p.Gly67Ala | |
| NR_149001.1:n.551G>C | ||
| NM_000474.4:c.200G>C MANE Select | NP_000465.1:p.Gly67Ala | |
| NR_149001.2:n.515G>C |