Linked Data
ClinVar Variation Id:
134784
dbSNP Id:
rs140626076
ExAC:
7:151860149 T / C
gnomAD v2:
7-151860149-T-C
gnomAD v3:
7-152163064-T-C
gnomAD v4:
7-152163064-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152163064T>C , CM000669.2:g.152163064T>C | GRCh38 |
| NC_000007.13:g.151860149T>C , CM000669.1:g.151860149T>C | GRCh37 |
| NC_000007.12:g.151491082T>C | NCBI36 |
| NG_033948.1:g.277942A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682283.1:c.10513A>G | ENSP00000507485.1:p.Asn3505Asp | |
| ENST00000683120.1:n.2499A>G | ||
| ENST00000683178.1:c.996A>G | ||
| ENST00000683200.1:c.7861A>G | ENSP00000508052.1:p.Asn2621Asp | |
| ENST00000683397.1:c.5271A>G | ENSP00000507053.1:n.5271A>G | |
| ENST00000683502.1:c.996A>G | ||
| ENST00000683625.1:c.4726A>G | ENSP00000507769.1:p.Asn1576Asp | |
| ENST00000683670.1:c.5248A>G | ENSP00000507634.1:p.Asn1750Asp | |
| ENST00000684261.1:c.5248A>G | ENSP00000508097.1:p.Asn1750Asp | |
| ENST00000684307.1:c.5184A>G | ENSP00000507202.1:n.5184A>G | |
| ENST00000684398.1:c.5152A>G | ENSP00000507254.1:p.Asn1718Asp | |
| ENST00000684649.1:c.996A>G | ||
| ENST00000262189.11:c.10513A>G MANE Select | ENSP00000262189.6:p.Asn3505Asp | |
| ENST00000360104.8:c.6135A>G | ||
| ENST00000418061.2:c.996A>G | ||
| ENST00000424877.6:c.996A>G | ||
| ENST00000679393.1:n.4004A>G | ||
| ENST00000679560.1:c.5248A>G | ENSP00000505094.1:p.Asn1750Asp | |
| ENST00000679882.1:c.10288A>G | ENSP00000506154.1:p.Asn3430Asp | |
| ENST00000680029.1:c.996A>G | ||
| ENST00000680877.1:c.5248A>G | ENSP00000505724.1:p.Asn1750Asp | |
| ENST00000680969.1:c.7909A>G | ENSP00000505951.1:p.Asn2637Asp | |
| ENST00000262189.10:c.10513A>G | ENSP00000262189.6:p.Asn3505Asp | |
| ENST00000355193.6:c.10513A>G | ENSP00000347325.3:p.Asn3505Asp | |
| ENST00000360104.7:c.3029A>G | ||
| ENST00000424877.5:c.271A>G | ENSP00000410411.1:p.Asn91Asp | |
| ENST00000473186.5:n.8224A>G | ||
| ENST00000558084.5:c.*8033A>G | ENSP00000453752.1:n.*8033A>G | |
| NM_170606.2:c.10513A>G | NP_733751.2:p.Asn3505Asp | |
| XM_005250025.3:c.10564A>G | XP_005250082.1:p.Asn3522Asp | |
| XM_005250026.2:c.10561A>G | XP_005250083.1:p.Asn3521Asp | |
| XM_005250027.3:c.10564A>G | XP_005250084.1:p.Asn3522Asp | |
| XM_005250028.3:c.10564A>G | XP_005250085.1:p.Asn3522Asp | |
| XM_005250031.3:c.10564A>G | XP_005250088.1:p.Asn3522Asp | |
| XM_006716077.2:c.10564A>G | XP_006716140.1:p.Asn3522Asp | |
| XM_006716078.2:c.10564A>G | XP_006716141.1:p.Asn3522Asp | |
| XM_006716079.2:c.10564A>G | XP_006716142.1:p.Asn3522Asp | |
| XM_011516450.1:c.10516A>G | XP_011514752.1:p.Asn3506Asp | |
| XM_011516451.1:c.10444A>G | XP_011514753.1:p.Asn3482Asp | |
| XM_011516452.1:c.10411A>G | XP_011514754.1:p.Asn3471Asp | |
| XM_011516453.1:c.10564A>G | XP_011514755.1:p.Asn3522Asp | |
| XM_011516454.1:c.9649A>G | XP_011514756.1:p.Asn3217Asp | |
| XM_011516455.1:c.8110A>G | XP_011514757.1:p.Asn2704Asp | |
| XM_011516456.1:c.10516A>G | XP_011514758.1:p.Asn3506Asp | |
| XR_428183.2:n.10772A>G | ||
| XM_005250025.4:c.10564A>G | XP_005250082.1:p.Asn3522Asp | |
| XM_005250026.3:c.10561A>G | XP_005250083.1:p.Asn3521Asp | |
| XM_005250027.4:c.10564A>G | XP_005250084.1:p.Asn3522Asp | |
| XM_005250028.4:c.10564A>G | XP_005250085.1:p.Asn3522Asp | |
| XM_005250031.4:c.10564A>G | XP_005250088.1:p.Asn3522Asp | |
| XM_006716077.3:c.10564A>G | XP_006716140.1:p.Asn3522Asp | |
| XM_006716078.3:c.10564A>G | XP_006716141.1:p.Asn3522Asp | |
| XM_006716079.3:c.10564A>G | XP_006716142.1:p.Asn3522Asp | |
| XM_011516450.2:c.10516A>G | XP_011514752.1:p.Asn3506Asp | |
| XM_011516451.2:c.10444A>G | XP_011514753.1:p.Asn3482Asp | |
| XM_011516452.2:c.10411A>G | XP_011514754.1:p.Asn3471Asp | |
| XM_011516453.2:c.10564A>G | XP_011514755.1:p.Asn3522Asp | |
| XM_011516454.2:c.9649A>G | XP_011514756.1:p.Asn3217Asp | |
| XM_011516456.2:c.10516A>G | XP_011514758.1:p.Asn3506Asp | |
| XM_017012480.1:c.10564A>G | XP_016867969.1:p.Asn3522Asp | |
| XM_017012481.1:c.10561A>G | XP_016867970.1:p.Asn3521Asp | |
| XM_017012482.1:c.10564A>G | XP_016867971.1:p.Asn3522Asp | |
| XM_017012483.1:c.10564A>G | XP_016867972.1:p.Asn3522Asp | |
| XM_017012484.1:c.10531A>G | XP_016867973.1:p.Asn3511Asp | |
| XM_017012485.1:c.10513A>G | XP_016867974.1:p.Asn3505Asp | |
| XM_017012486.1:c.10564A>G | XP_016867975.1:p.Asn3522Asp | |
| XM_017012487.1:c.10417A>G | XP_016867976.1:p.Asn3473Asp | |
| XM_017012488.1:c.10381A>G | XP_016867977.1:p.Asn3461Asp | |
| XM_017012489.1:c.7234A>G | XP_016867978.1:p.Asn2412Asp | |
| XM_017012490.2:c.6838A>G | XP_016867979.1:p.Asn2280Asp | |
| XM_024446852.1:c.10561A>G | XP_024302620.1:p.Asn3521Asp | |
| XM_024446853.1:c.10564A>G | XP_024302621.1:p.Asn3522Asp | |
| XR_428183.3:n.10796A>G | ||
| NM_170606.3:c.10513A>G MANE Select | NP_733751.2:p.Asn3505Asp |