Linked Data
ClinVar Variation Id:
6794
dbSNP Id:
rs104886033
ExAC:
11:71155998 T / C
gnomAD v2:
11-71155998-T-C
gnomAD v3:
11-71444952-T-C
gnomAD v4:
11-71444952-T-C
MyVariant Identifiers:
chr11:g.71155998T>C (hg19)
chr11:g.71155998_71156001delinsCTGG (hg19)
chr11:g.71444952T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71444952T>C , CM000673.2:g.71444952T>C | GRCh38 |
| NC_000011.9:g.71155998T>C , CM000673.1:g.71155998T>C | GRCh37 |
| NC_000011.8:g.70833646T>C | NCBI36 |
| NG_012655.2:g.8480A>G , LRG_340:g.8480A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1A>G | ENSP00000435707.3:p.Met1Val | |
| ENST00000526780.6:c.1A>G | ENSP00000435668.2:p.Met1Val | |
| ENST00000527316.6:c.-245A>G | ENSP00000435047.2:n.-245A>G | |
| ENST00000529990.6:c.-212A>G | ENSP00000435058.2:n.-212A>G | |
| ENST00000682708.1:c.1A>G | ENSP00000506866.1:p.Met1Val | |
| ENST00000682880.1:c.1A>G | ENSP00000507520.1:p.Met1Val | |
| ENST00000683287.1:c.1A>G | ENSP00000507607.1:p.Met1Val | |
| ENST00000683714.1:c.1A>G | ENSP00000508207.1:p.Met1Val | |
| ENST00000683874.1:n.278A>G | ||
| ENST00000685320.1:c.-333-891A>G | ENSP00000509319.1:n.-333-891A>G | |
| ENST00000690257.1:c.1A>G | ENSP00000510750.1:p.Met1Val | |
| ENST00000355527.8:c.1A>G MANE Select | ENSP00000347717.4:p.Met1Val | |
| ENST00000355527.7:c.1A>G | ENSP00000347717.3:p.Met1Val | |
| ENST00000407721.6:c.1A>G | ENSP00000384739.2:p.Met1Val | |
| ENST00000525346.5:c.1A>G | ENSP00000435707.2:p.Met1Val | |
| ENST00000526780.5:c.1A>G | ENSP00000435668.1:p.Met1Val | |
| ENST00000527316.5:c.1A>G | ENSP00000435047.1:p.Met1Val | |
| ENST00000527452.1:c.1A>G | ENSP00000436007.1:p.Met1Val | |
| ENST00000529990.5:c.-98A>G | ENSP00000435058.1:n.-98A>G | |
| ENST00000531364.5:c.1A>G | ENSP00000432589.1:p.Met1Val | |
| NM_001163817.1:c.1A>G | NP_001157289.1:p.Met1Val | |
| NM_001360.2:c.1A>G , LRG_340t1:c.1A>G | NP_001351.2:p.Met1Val | |
| XM_011544777.1:c.1A>G | XP_011543079.1:p.Met1Val | |
| XM_011544777.2:c.1A>G | XP_011543079.1:p.Met1Val | |
| NM_001163817.2:c.1A>G | NP_001157289.1:p.Met1Val | |
| NM_001360.3:c.1A>G MANE Select | NP_001351.2:p.Met1Val |