Linked Data
ClinVar Variation Id:
290743
dbSNP Id:
rs139243761
ExAC:
6:43006119 C / T
gnomAD v2:
6-43006119-C-T
gnomAD v3:
6-43038381-C-T
gnomAD v4:
6-43038381-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43038381C>T , CM000668.2:g.43038381C>T | GRCh38 |
| NC_000006.11:g.43006119C>T , CM000668.1:g.43006119C>T | GRCh37 |
| NC_000006.10:g.43114097C>T | NCBI36 |
| NG_016205.1:g.20565G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478630.2:n.2879G>A | ||
| ENST00000674112.2:c.*1G>A | ENSP00000501166.2:n.*1G>A | |
| ENST00000683242.1:n.1206G>A | ||
| ENST00000685042.1:c.*1315G>A | ENSP00000509871.1:n.*1315G>A | |
| ENST00000686442.1:n.5537G>A | ||
| ENST00000687225.1:c.*2945G>A | ENSP00000509364.1:n.*2945G>A | |
| ENST00000688302.1:n.5080G>A | ||
| ENST00000689256.1:n.5236G>A | ||
| ENST00000690231.1:c.4659G>A | ENSP00000508461.1:p.Glu1553= | |
| ENST00000692002.1:c.684G>A | ENSP00000508567.1:p.Glu228= | |
| ENST00000265348.9:c.4659G>A MANE Select | ENSP00000265348.4:p.Glu1553= | |
| ENST00000673725.1:c.2519G>A | ||
| ENST00000673753.1:n.5487G>A | ||
| ENST00000674100.1:c.4755G>A | ENSP00000501292.1:p.Glu1585= | |
| ENST00000674112.1:c.3140G>A | ||
| ENST00000674134.1:c.4755G>A | ENSP00000501068.1:p.Glu1585= | |
| ENST00000265348.7:c.4659G>A | ENSP00000265348.3:p.Glu1553= | |
| ENST00000535468.1:c.4911G>A | ENSP00000438788.1:p.Glu1637= | |
| NM_001168370.1:c.4911G>A | NP_001161842.1:p.Glu1637= | |
| NM_014780.4:c.4659G>A | NP_055595.2:p.Glu1553= | |
| XM_005249503.1:c.4815G>A | XP_005249560.1:p.Glu1605= | |
| XM_006715285.1:c.4767G>A | XP_006715348.1:p.Glu1589= | |
| XM_011515019.1:c.4923G>A | XP_011513321.1:p.Glu1641= | |
| XM_011515020.1:c.4827G>A | XP_011513322.1:p.Glu1609= | |
| XM_011515021.1:c.2532G>A | XP_011513323.1:p.Glu844= | |
| XM_005249503.3:c.4815G>A | XP_005249560.1:p.Glu1605= | |
| XM_006715285.2:c.4767G>A | XP_006715348.1:p.Glu1589= | |
| XM_011515019.2:c.4923G>A | XP_011513321.1:p.Glu1641= | |
| XM_011515020.2:c.4827G>A | XP_011513322.1:p.Glu1609= | |
| XM_017011533.1:c.4950G>A | XP_016867022.1:p.Glu1650= | |
| XM_017011534.1:c.4938G>A | XP_016867023.1:p.Glu1646= | |
| XM_017011535.1:c.4854G>A | XP_016867024.1:p.Glu1618= | |
| XM_017011536.2:c.4794G>A | XP_016867025.1:p.Glu1598= | |
| XM_017011537.2:c.4755G>A | XP_016867026.1:p.Glu1585= | |
| XM_017011538.2:c.4698G>A | XP_016867027.1:p.Glu1566= | |
| XM_017011539.2:c.4671G>A | XP_016867028.1:p.Glu1557= | |
| NM_001168370.2:c.4755G>A | NP_001161842.2:p.Glu1585= | |
| NM_001374872.1:c.4755G>A | NP_001361801.1:p.Glu1585= | |
| NM_001374873.1:c.4671G>A | NP_001361802.1:p.Glu1557= | |
| NM_001374874.1:c.4656G>A | NP_001361803.1:p.Glu1552= | |
| NM_014780.5:c.4659G>A MANE Select | NP_055595.2:p.Glu1553= |