Linked Data
ClinVar Variation Id:
88895
dbSNP Id:
rs587777073
gnomAD v4:
7-152194506-G-A
COSMIC:
COSM85098
PubMed:
PMID:22726846
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152194506G>A , CM000669.2:g.152194506G>A | GRCh38 |
| NC_000007.13:g.151891591G>A , CM000669.1:g.151891591G>A | GRCh37 |
| NC_000007.12:g.151522524G>A | NCBI36 |
| NG_033948.1:g.246500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682176.1:c.1118C>T | ||
| ENST00000682283.1:c.4441C>T | ENSP00000507485.1:p.Arg1481Ter | |
| ENST00000683185.1:n.1892C>T | ||
| ENST00000683200.1:c.1789C>T | ENSP00000508052.1:p.Arg597Ter | |
| ENST00000683254.1:n.8910C>T | ||
| ENST00000262189.11:c.4441C>T MANE Select | ENSP00000262189.6:p.Arg1481Ter | |
| ENST00000360104.8:c.63C>T | ||
| ENST00000679645.1:c.*534C>T | ENSP00000505745.1:n.*534C>T | |
| ENST00000679882.1:c.4216C>T | ENSP00000506154.1:p.Arg1406Ter | |
| ENST00000680969.1:c.1837C>T | ENSP00000505951.1:p.Arg613Ter | |
| ENST00000681033.1:c.3139C>T | ENSP00000505058.1:p.Arg1047Ter | |
| ENST00000262189.10:c.4441C>T | ENSP00000262189.6:p.Arg1481Ter | |
| ENST00000355193.6:c.4441C>T | ENSP00000347325.3:p.Arg1481Ter | |
| ENST00000473186.5:n.2152C>T | ||
| ENST00000558084.5:c.*1961C>T | ENSP00000453752.1:n.*1961C>T | |
| NM_170606.2:c.4441C>T | NP_733751.2:p.Arg1481Ter | |
| XM_005250025.3:c.4492C>T | XP_005250082.1:p.Arg1498Ter | |
| XM_005250026.2:c.4489C>T | XP_005250083.1:p.Arg1497Ter | |
| XM_005250027.3:c.4492C>T | XP_005250084.1:p.Arg1498Ter | |
| XM_005250028.3:c.4492C>T | XP_005250085.1:p.Arg1498Ter | |
| XM_005250031.3:c.4492C>T | XP_005250088.1:p.Arg1498Ter | |
| XM_006716077.2:c.4492C>T | XP_006716140.1:p.Arg1498Ter | |
| XM_006716078.2:c.4492C>T | XP_006716141.1:p.Arg1498Ter | |
| XM_006716079.2:c.4492C>T | XP_006716142.1:p.Arg1498Ter | |
| XM_011516450.1:c.4444C>T | XP_011514752.1:p.Arg1482Ter | |
| XM_011516451.1:c.4372C>T | XP_011514753.1:p.Arg1458Ter | |
| XM_011516452.1:c.4339C>T | XP_011514754.1:p.Arg1447Ter | |
| XM_011516453.1:c.4492C>T | XP_011514755.1:p.Arg1498Ter | |
| XM_011516454.1:c.3577C>T | XP_011514756.1:p.Arg1193Ter | |
| XM_011516455.1:c.2038C>T | XP_011514757.1:p.Arg680Ter | |
| XM_011516456.1:c.4444C>T | XP_011514758.1:p.Arg1482Ter | |
| XR_428183.2:n.4700C>T | ||
| XM_005250025.4:c.4492C>T | XP_005250082.1:p.Arg1498Ter | |
| XM_005250026.3:c.4489C>T | XP_005250083.1:p.Arg1497Ter | |
| XM_005250027.4:c.4492C>T | XP_005250084.1:p.Arg1498Ter | |
| XM_005250028.4:c.4492C>T | XP_005250085.1:p.Arg1498Ter | |
| XM_005250031.4:c.4492C>T | XP_005250088.1:p.Arg1498Ter | |
| XM_006716077.3:c.4492C>T | XP_006716140.1:p.Arg1498Ter | |
| XM_006716078.3:c.4492C>T | XP_006716141.1:p.Arg1498Ter | |
| XM_006716079.3:c.4492C>T | XP_006716142.1:p.Arg1498Ter | |
| XM_011516450.2:c.4444C>T | XP_011514752.1:p.Arg1482Ter | |
| XM_011516451.2:c.4372C>T | XP_011514753.1:p.Arg1458Ter | |
| XM_011516452.2:c.4339C>T | XP_011514754.1:p.Arg1447Ter | |
| XM_011516453.2:c.4492C>T | XP_011514755.1:p.Arg1498Ter | |
| XM_011516454.2:c.3577C>T | XP_011514756.1:p.Arg1193Ter | |
| XM_011516456.2:c.4444C>T | XP_011514758.1:p.Arg1482Ter | |
| XM_017012480.1:c.4492C>T | XP_016867969.1:p.Arg1498Ter | |
| XM_017012481.1:c.4489C>T | XP_016867970.1:p.Arg1497Ter | |
| XM_017012482.1:c.4492C>T | XP_016867971.1:p.Arg1498Ter | |
| XM_017012483.1:c.4492C>T | XP_016867972.1:p.Arg1498Ter | |
| XM_017012484.1:c.4459C>T | XP_016867973.1:p.Arg1487Ter | |
| XM_017012485.1:c.4441C>T | XP_016867974.1:p.Arg1481Ter | |
| XM_017012486.1:c.4492C>T | XP_016867975.1:p.Arg1498Ter | |
| XM_017012487.1:c.4345C>T | XP_016867976.1:p.Arg1449Ter | |
| XM_017012488.1:c.4492C>T | XP_016867977.1:p.Arg1498Ter | |
| XM_017012489.1:c.1162C>T | XP_016867978.1:p.Arg388Ter | |
| XM_017012490.2:c.766C>T | XP_016867979.1:p.Arg256Ter | |
| XM_024446852.1:c.4489C>T | XP_024302620.1:p.Arg1497Ter | |
| XM_024446853.1:c.4492C>T | XP_024302621.1:p.Arg1498Ter | |
| XR_428183.3:n.4724C>T | ||
| NM_170606.3:c.4441C>T MANE Select | NP_733751.2:p.Arg1481Ter |