Linked Data
ClinVar Variation Id:
371066
ClinVar RCV Id:
RCV000411661
dbSNP Id:
rs1057516977
gnomAD v2:
11-71155983-G-A
gnomAD v4:
11-71444937-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71444937G>A , CM000673.2:g.71444937G>A | GRCh38 |
| NC_000011.9:g.71155983G>A , CM000673.1:g.71155983G>A | GRCh37 |
| NC_000011.8:g.70833631G>A | NCBI36 |
| NG_012655.2:g.8495C>T , LRG_340:g.8495C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.16C>T | ENSP00000435707.3:p.Gln6Ter | |
| ENST00000526780.6:c.16C>T | ENSP00000435668.2:p.Gln6Ter | |
| ENST00000527316.6:c.-230C>T | ENSP00000435047.2:n.-230C>T | |
| ENST00000529990.6:c.-197C>T | ENSP00000435058.2:n.-197C>T | |
| ENST00000682708.1:c.16C>T | ENSP00000506866.1:p.Gln6Ter | |
| ENST00000682880.1:c.16C>T | ENSP00000507520.1:p.Gln6Ter | |
| ENST00000683287.1:c.16C>T | ENSP00000507607.1:p.Gln6Ter | |
| ENST00000683714.1:c.16C>T | ENSP00000508207.1:p.Gln6Ter | |
| ENST00000683874.1:n.293C>T | ||
| ENST00000685320.1:c.-333-876C>T | ENSP00000509319.1:n.-333-876C>T | |
| ENST00000690257.1:c.16C>T | ENSP00000510750.1:p.Gln6Ter | |
| ENST00000355527.8:c.16C>T MANE Select | ENSP00000347717.4:p.Gln6Ter | |
| ENST00000355527.7:c.16C>T | ENSP00000347717.3:p.Gln6Ter | |
| ENST00000407721.6:c.16C>T | ENSP00000384739.2:p.Gln6Ter | |
| ENST00000525346.5:c.16C>T | ENSP00000435707.2:p.Gln6Ter | |
| ENST00000526780.5:c.16C>T | ENSP00000435668.1:p.Gln6Ter | |
| ENST00000527316.5:c.16C>T | ENSP00000435047.1:p.Gln6Ter | |
| ENST00000527452.1:c.16C>T | ENSP00000436007.1:p.Gln6Ter | |
| ENST00000529990.5:c.-83C>T | ENSP00000435058.1:n.-83C>T | |
| ENST00000531364.5:c.16C>T | ENSP00000432589.1:p.Gln6Ter | |
| NM_001163817.1:c.16C>T | NP_001157289.1:p.Gln6Ter | |
| NM_001360.2:c.16C>T , LRG_340t1:c.16C>T | NP_001351.2:p.Gln6Ter | |
| XM_011544777.1:c.16C>T | XP_011543079.1:p.Gln6Ter | |
| XM_011544777.2:c.16C>T | XP_011543079.1:p.Gln6Ter | |
| NM_001163817.2:c.16C>T | NP_001157289.1:p.Gln6Ter | |
| NM_001360.3:c.16C>T MANE Select | NP_001351.2:p.Gln6Ter |