Linked Data
ClinVar Variation Id:
1613
dbSNP Id:
rs121918228
ExAC:
6:43006687 G / A
gnomAD v2:
6-43006687-G-A
gnomAD v3:
6-43038949-G-A
gnomAD v4:
6-43038949-G-A
PubMed:
PMID:16142236
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43038949G>A , CM000668.2:g.43038949G>A | GRCh38 |
| NC_000006.11:g.43006687G>A , CM000668.1:g.43006687G>A | GRCh37 |
| NC_000006.10:g.43114665G>A | NCBI36 |
| NG_016205.1:g.19997C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478630.2:n.2404C>T | ||
| ENST00000674112.2:c.4333C>T | ENSP00000501166.2:p.Arg1445Ter | |
| ENST00000683242.1:n.731C>T | ||
| ENST00000685042.1:c.*989C>T | ENSP00000509871.1:n.*989C>T | |
| ENST00000686442.1:n.5062C>T | ||
| ENST00000687225.1:c.*2630C>T | ENSP00000509364.1:n.*2630C>T | |
| ENST00000688302.1:n.4616C>T | ||
| ENST00000689256.1:n.4910C>T | ||
| ENST00000690231.1:c.4333C>T | ENSP00000508461.1:p.Arg1445Ter | |
| ENST00000692002.1:c.346C>T | ENSP00000508567.1:p.Arg116Ter | |
| ENST00000265348.9:c.4333C>T MANE Select | ENSP00000265348.4:p.Arg1445Ter | |
| ENST00000673725.1:c.2204C>T | ||
| ENST00000673753.1:n.5172C>T | ||
| ENST00000674100.1:c.4429C>T | ENSP00000501292.1:p.Arg1477Ter | |
| ENST00000674112.1:c.2825C>T | ||
| ENST00000674134.1:c.4429C>T | ENSP00000501068.1:p.Arg1477Ter | |
| ENST00000265348.7:c.4333C>T | ENSP00000265348.3:p.Arg1445Ter | |
| ENST00000535468.1:c.4585C>T | ENSP00000438788.1:p.Arg1529Ter | |
| NM_001168370.1:c.4585C>T | NP_001161842.1:p.Arg1529Ter | |
| NM_014780.4:c.4333C>T | NP_055595.2:p.Arg1445Ter | |
| XM_005249503.1:c.4489C>T | XP_005249560.1:p.Arg1497Ter | |
| XM_006715285.1:c.4429C>T | XP_006715348.1:p.Arg1477Ter | |
| XM_011515019.1:c.4585C>T | XP_011513321.1:p.Arg1529Ter | |
| XM_011515020.1:c.4489C>T | XP_011513322.1:p.Arg1497Ter | |
| XM_011515021.1:c.2194C>T | XP_011513323.1:p.Arg732Ter | |
| XM_005249503.3:c.4489C>T | XP_005249560.1:p.Arg1497Ter | |
| XM_006715285.2:c.4429C>T | XP_006715348.1:p.Arg1477Ter | |
| XM_011515019.2:c.4585C>T | XP_011513321.1:p.Arg1529Ter | |
| XM_011515020.2:c.4489C>T | XP_011513322.1:p.Arg1497Ter | |
| XM_017011533.1:c.4612C>T | XP_016867022.1:p.Arg1538Ter | |
| XM_017011534.1:c.4612C>T | XP_016867023.1:p.Arg1538Ter | |
| XM_017011535.1:c.4516C>T | XP_016867024.1:p.Arg1506Ter | |
| XM_017011536.2:c.4456C>T | XP_016867025.1:p.Arg1486Ter | |
| XM_017011537.2:c.4429C>T | XP_016867026.1:p.Arg1477Ter | |
| XM_017011538.2:c.4360C>T | XP_016867027.1:p.Arg1454Ter | |
| XM_017011539.2:c.4333C>T | XP_016867028.1:p.Arg1445Ter | |
| NM_001168370.2:c.4429C>T | NP_001161842.2:p.Arg1477Ter | |
| NM_001374872.1:c.4429C>T | NP_001361801.1:p.Arg1477Ter | |
| NM_001374873.1:c.4333C>T | NP_001361802.1:p.Arg1445Ter | |
| NM_001374874.1:c.4330C>T | NP_001361803.1:p.Arg1444Ter | |
| NM_014780.5:c.4333C>T MANE Select | NP_055595.2:p.Arg1445Ter |