Linked Data
dbSNP Id:
rs570143876
ExAC:
11:118897794 C / T
gnomAD v2:
11-118897794-C-T
gnomAD v3:
11-119027084-C-T
gnomAD v4:
11-119027084-C-T
MyVariant Identifiers:
chr11:g.118897794C>T (hg19)
chr11:g.118897794_118897797delinsTCTT (hg19)
chr11:g.119027084C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027084C>T , CM000673.2:g.119027084C>T | GRCh38 |
| NC_000011.9:g.118897794C>T , CM000673.1:g.118897794C>T | GRCh37 |
| NC_000011.8:g.118403004C>T | NCBI36 |
| NG_013331.1:g.8822G>A , LRG_187:g.8822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.867G>A | ||
| ENST00000697845.1:n.791G>A | ||
| ENST00000697846.1:n.867G>A | ||
| ENST00000697847.1:n.867G>A | ||
| ENST00000697848.1:n.867G>A | ||
| ENST00000697849.1:n.1906G>A | ||
| ENST00000697850.1:n.867G>A | ||
| ENST00000697851.1:n.2227G>A | ||
| ENST00000638186.1:n.941G>A | ||
| ENST00000638360.1:n.773G>A | ||
| ENST00000638925.1:n.874G>A | ||
| ENST00000650539.1:n.1043G>A | ||
| ENST00000330775.9:c.637G>A | ENSP00000476242.2:p.Glu213Lys | |
| ENST00000357590.9:c.637G>A | ENSP00000476176.2:p.Glu213Lys | |
| ENST00000524428.5:n.959G>A | ||
| ENST00000525039.5:n.1061G>A | ||
| ENST00000525102.5:n.1395G>A | ||
| ENST00000525372.5:n.638G>A | ||
| ENST00000526275.5:n.1419G>A | ||
| ENST00000526626.6:n.600G>A | ||
| ENST00000527992.5:n.865G>A | ||
| ENST00000529510.5:n.411G>A | ||
| ENST00000530407.5:n.787G>A | ||
| ENST00000532085.1:n.3248G>A | ||
| ENST00000532888.6:n.933G>A | ||
| ENST00000538950.5:c.418G>A | ENSP00000475991.2:p.Glu140Lys | |
| ENST00000545985.5:c.637G>A | ENSP00000475241.2:p.Glu213Lys | |
| NM_001164277.1:c.637G>A , LRG_187t1:c.637G>A | NP_001157749.1:p.Glu213Lys | |
| NM_001164278.1:c.637G>A | NP_001157750.1:p.Glu213Lys | |
| NM_001164279.1:c.418G>A | NP_001157751.1:p.Glu140Lys | |
| NM_001164280.1:c.637G>A | NP_001157752.1:p.Glu213Lys | |
| NM_001467.5:c.637G>A | NP_001458.1:p.Glu213Lys | |
| NM_001164278.2:c.637G>A | NP_001157750.1:p.Glu213Lys | |
| NM_001164279.2:c.418G>A | NP_001157751.1:p.Glu140Lys | |
| NM_001164280.2:c.637G>A | NP_001157752.1:p.Glu213Lys | |
| NM_001467.6:c.637G>A | NP_001458.1:p.Glu213Lys | |
| NM_001164277.2:c.637G>A MANE Select | NP_001157749.1:p.Glu213Lys |