Linked Data
ClinVar Variation Id:
346992
dbSNP Id:
rs886058949
gnomAD v2:
3-98312193-G-C
gnomAD v3:
3-98593349-G-C
gnomAD v4:
3-98593349-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98593349G>C , CM000665.2:g.98593349G>C | GRCh38 |
| NC_000003.11:g.98312193G>C , CM000665.1:g.98312193G>C | GRCh37 |
| NC_000003.10:g.99794883G>C | NCBI36 |
| NG_015994.1:g.5263C>G | |
| NG_015994.2:g.5263C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.156C>G MANE Select | ENSP00000497326.1:p.Gly52= | |
| ENST00000264193.2:c.156C>G | ENSP00000264193.2:p.Gly52= | |
| ENST00000513674.1:c.156C>G | ENSP00000424924.1:p.Gly52= | |
| ENST00000515041.1:n.262C>G | ||
| NM_000097.5:c.156C>G | NP_000088.3:p.Gly52= | |
| XM_005247125.3:c.156C>G | XP_005247182.1:p.Gly52= | |
| XM_011512437.1:c.156C>G | XP_011510739.1:p.Gly52= | |
| NM_000097.7:c.156C>G MANE Select | NP_000088.3:p.Gly52= | |
| XM_005247125.4:c.156C>G | XP_005247182.1:p.Gly52= | |
| XR_001740025.2:n.327C>G | ||
| XR_001740026.1:n.332C>G | ||
| XR_001740027.1:n.336C>G | ||
| XR_001740028.1:n.336C>G |