Linked Data
ClinVar Variation Id:
130634
dbSNP Id:
rs3735801
ExAC:
8:141461266 A / G
gnomAD v2:
8-141461266-A-G
gnomAD v3:
8-140451167-A-G
gnomAD v4:
8-140451167-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.140451167A>G , CM000670.2:g.140451167A>G | GRCh38 |
| NC_000008.10:g.141461266A>G , CM000670.1:g.141461266A>G | GRCh37 |
| NC_000008.9:g.141530448A>G | NCBI36 |
| NG_016478.2:g.12413T>C | |
| NG_016478.3:g.12413T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438773.4:c.207T>C MANE Select | ENSP00000405060.3:p.Gly69= | |
| ENST00000648948.2:c.207T>C | ENSP00000498020.1:p.Gly69= | |
| ENST00000389328.8:c.501T>C | ENSP00000373979.4:p.Gly167= | |
| ENST00000438773.2:c.207T>C | ENSP00000405060.2:p.Gly69= | |
| NM_001160372.2:c.207T>C | NP_001153844.1:p.Gly69= | |
| NM_031466.6:c.501T>C | NP_113654.4:p.Gly167= | |
| XM_005251077.3:c.207T>C | XP_005251134.1:p.Gly69= | |
| XM_011517326.1:c.501T>C | XP_011515628.1:p.Gly167= | |
| XM_011517327.1:c.501T>C | XP_011515629.1:p.Gly167= | |
| XM_011517328.1:c.501T>C | XP_011515630.1:p.Gly167= | |
| XR_928355.1:n.516T>C | ||
| NM_001160372.3:c.207T>C | NP_001153844.1:p.Gly69= | |
| NM_001321646.1:c.207T>C | NP_001308575.1:p.Gly69= | |
| NM_031466.7:c.501T>C | NP_113654.4:p.Gly167= | |
| XM_011517326.2:c.501T>C | XP_011515628.1:p.Gly167= | |
| XM_011517328.2:c.501T>C | XP_011515630.1:p.Gly167= | |
| XM_017013893.1:c.501T>C | XP_016869382.1:p.Gly167= | |
| XR_928355.2:n.516T>C | ||
| NM_001160372.4:c.207T>C MANE Select | NP_001153844.1:p.Gly69= | |
| NM_001321646.2:c.207T>C | NP_001308575.1:p.Gly69= | |
| NM_001374682.1:c.207T>C | NP_001361611.1:p.Gly69= | |
| NM_001374683.1:c.207T>C | NP_001361612.1:p.Gly69= | |
| NM_001374684.1:c.207T>C | NP_001361613.1:p.Gly69= | |
| NM_031466.8:c.207T>C | NP_113654.5:p.Gly69= | |
| NR_164662.1:n.323T>C |