Linked Data
ClinVar Variation Id:
1077388
dbSNP Id:
rs764493374
ExAC:
7:65425911 T / C
gnomAD v2:
7-65425911-T-C
gnomAD v3:
7-65960924-T-C
gnomAD v4:
7-65960924-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960924T>C , CM000669.2:g.65960924T>C | GRCh38 |
| NC_000007.13:g.65425911T>C , CM000669.1:g.65425911T>C | GRCh37 |
| NC_000007.12:g.65063346T>C | NCBI36 |
| NG_016197.1:g.26391A>G | |
| NG_051954.1:g.92826T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1929A>G MANE Select | ENSP00000302728.4:p.Gln643= | |
| ENST00000304895.8:c.1929A>G | ENSP00000302728.4:p.Gln643= | |
| ENST00000421103.5:c.1491A>G | ENSP00000391390.1:p.Gln497= | |
| ENST00000430730.5:c.*1196A>G | ENSP00000411859.1:n.*1196A>G | |
| ENST00000447929.5:c.*1309A>G | ENSP00000411262.1:n.*1309A>G | |
| ENST00000466883.5:n.2319A>G | ||
| NM_000181.3:c.1929A>G | NP_000172.2:p.Gln643= | |
| NM_001284290.1:c.1491A>G | NP_001271219.1:p.Gln497= | |
| NM_001293104.1:c.1359A>G | NP_001280033.1:p.Gln453= | |
| NM_001293105.1:c.1272A>G | NP_001280034.1:p.Gln424= | |
| NR_120531.1:n.1975A>G | ||
| XM_005250297.3:c.1776A>G | XP_005250354.1:p.Gln592= | |
| XM_011516113.1:c.1428A>G | XP_011514415.1:p.Gln476= | |
| XM_011516114.1:c.1257A>G | XP_011514416.1:p.Gln419= | |
| XM_005250297.4:c.1776A>G | XP_005250354.1:p.Gln592= | |
| XM_011516114.2:c.1257A>G | XP_011514416.1:p.Gln419= | |
| XM_017012091.1:c.1275A>G | XP_016867580.1:p.Gln425= | |
| XM_017012092.1:c.1206A>G | XP_016867581.1:p.Gln402= | |
| XM_017012093.2:c.1104A>G | XP_016867582.1:p.Gln368= | |
| XR_001744658.2:n.1736A>G | ||
| XR_001744659.2:n.1849A>G | ||
| XR_001744660.2:n.1781A>G | ||
| XR_001744661.2:n.1696A>G | ||
| XR_927461.3:n.1934A>G | ||
| NM_000181.4:c.1929A>G MANE Select | NP_000172.2:p.Gln643= | |
| NM_001284290.2:c.1491A>G | NP_001271219.1:p.Gln497= | |
| NM_001293104.2:c.1359A>G | NP_001280033.1:p.Gln453= | |
| NM_001293105.2:c.1272A>G | NP_001280034.1:p.Gln424= | |
| NR_120531.2:n.1874A>G |