Linked Data
ClinVar Variation Id:
299189
dbSNP Id:
rs17173752
ExAC:
10:127484721 A / G
gnomAD v2:
10-127484721-A-G
gnomAD v3:
10-125796152-A-G
gnomAD v4:
10-125796152-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125796152A>G , CM000672.2:g.125796152A>G | GRCh38 |
| NC_000010.10:g.127484721A>G , CM000672.1:g.127484721A>G | GRCh37 |
| NC_000010.9:g.127474711A>G | NCBI36 |
| NG_011557.1:g.32117T>C | |
| NG_011557.2:g.32117T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.512T>C | ENSP00000518871.1:p.Val171Ala | |
| ENST00000368797.10:c.512T>C MANE Select | ENSP00000357787.4:p.Val171Ala | |
| ENST00000465577.6:c.189T>C | ||
| ENST00000648119.1:c.*101T>C | ENSP00000497494.1:n.*101T>C | |
| ENST00000648427.1:c.*167T>C | ENSP00000497909.1:n.*167T>C | |
| ENST00000649275.1:c.527T>C | ||
| ENST00000649536.1:c.431T>C | ENSP00000497817.1:p.Val144Ala | |
| ENST00000650185.1:c.295T>C | ||
| ENST00000650472.1:n.2898T>C | ||
| ENST00000650524.1:c.425T>C | ENSP00000498108.1:n.425T>C | |
| ENST00000650587.1:c.512T>C | ENSP00000497366.1:p.Val171Ala | |
| ENST00000368786.5:c.512T>C | ENSP00000357775.1:p.Val171Ala | |
| ENST00000368797.8:c.512T>C | ENSP00000357787.4:p.Val171Ala | |
| ENST00000420761.5:c.428T>C | ENSP00000414833.1:p.Val143Ala | |
| ENST00000462490.5:c.171T>C | ||
| ENST00000464267.1:n.76T>C | ||
| ENST00000465577.5:n.73T>C | ||
| ENST00000484541.5:n.39T>C | ||
| ENST00000616800.4:c.12T>C | ||
| ENST00000622016.4:c.92T>C | ENSP00000483041.1:p.Val31Ala | |
| NM_000375.2:c.512T>C | NP_000366.1:p.Val171Ala | |
| XM_005270137.2:c.512T>C | XP_005270194.1:p.Val171Ala | |
| XM_005270138.2:c.431T>C | XP_005270195.1:p.Val144Ala | |
| XM_005270139.2:c.512T>C | XP_005270196.1:p.Val171Ala | |
| XM_005270140.3:c.512T>C | XP_005270197.1:p.Val171Ala | |
| XM_006717960.2:c.512T>C | XP_006718023.1:p.Val171Ala | |
| XM_011540126.1:c.512T>C | XP_011538428.1:p.Val171Ala | |
| XM_011540127.1:c.512T>C | XP_011538429.1:p.Val171Ala | |
| XR_246103.2:n.692T>C | ||
| XR_945809.1:n.620T>C | ||
| XR_945810.1:n.922T>C | ||
| NM_000375.3:c.512T>C MANE Select | NP_000366.1:p.Val171Ala | |
| NM_001324036.1:c.512T>C | NP_001310965.1:p.Val171Ala | |
| NM_001324037.1:c.431T>C | NP_001310966.1:p.Val144Ala | |
| NM_001324038.1:c.431T>C | NP_001310967.1:p.Val144Ala | |
| NR_136675.1:n.597T>C | ||
| NR_136676.1:n.778T>C | ||
| NR_136677.1:n.778T>C | ||
| NR_136678.1:n.508T>C | ||
| XM_005270140.5:c.512T>C | XP_005270197.1:p.Val171Ala | |
| XM_011540127.2:c.512T>C | XP_011538429.1:p.Val171Ala | |
| XM_017016611.2:c.512T>C | XP_016872100.2:p.Val171Ala | |
| XM_017016612.2:c.512T>C | XP_016872101.1:p.Val171Ala | |
| XM_024448154.1:c.512T>C | XP_024303922.1:p.Val171Ala | |
| XM_024448155.1:c.431T>C | XP_024303923.1:p.Val144Ala | |
| XR_001747196.2:n.635T>C | ||
| XR_001747197.2:n.707T>C | ||
| XR_002957009.1:n.635T>C | ||
| XR_002957010.1:n.1851T>C | ||
| XR_246103.3:n.707T>C | ||
| XR_945810.2:n.937T>C | ||
| NM_001324036.2:c.512T>C | NP_001310965.1:p.Val171Ala | |
| NM_001324037.2:c.431T>C | NP_001310966.1:p.Val144Ala | |
| NM_001324038.2:c.431T>C | NP_001310967.1:p.Val144Ala | |
| NR_136675.2:n.587T>C | ||
| NR_136676.2:n.768T>C | ||
| NR_136678.2:n.498T>C | ||
| NR_136677.2:n.768T>C |