Linked Data
ClinVar Variation Id:
354323
dbSNP Id:
rs163127
gnomAD v2:
5-78281373-T-C
gnomAD v3:
5-78985550-T-C
gnomAD v4:
5-78985550-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78985550T>C , CM000667.2:g.78985550T>C | GRCh38 |
| NC_000005.9:g.78281373T>C , CM000667.1:g.78281373T>C | GRCh37 |
| NC_000005.8:g.78317129T>C | NCBI36 |
| NG_007089.1:g.5985A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.8:c.-302A>G | ENSP00000264914.4:n.-302A>G | |
| ENST00000396151.7:c.-302A>G | ENSP00000379455.3:n.-302A>G | |
| ENST00000521117.1:c.-302A>G | ENSP00000428611.1:n.-302A>G | |
| ENST00000565165.1:c.-302A>G | ENSP00000456339.1:n.-302A>G | |
| NM_000046.3:c.-302A>G | NP_000037.2:n.-302A>G | |
| NM_198709.2:c.-302A>G | NP_942002.1:n.-302A>G | |
| XM_011543390.1:c.-302A>G | XP_011541692.1:n.-302A>G | |
| NM_000046.4:c.-302A>G | NP_000037.2:n.-302A>G | |
| NM_198709.3:c.-302A>G | NP_942002.1:n.-302A>G |