Linked Data
ClinVar Variation Id:
701210
dbSNP Id:
rs1181418072
gnomAD v2:
11-1775111-C-T
gnomAD v3:
11-1753881-C-T
gnomAD v4:
11-1753881-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753881C>T , CM000673.2:g.1753881C>T | GRCh38 |
| NC_000011.9:g.1775111C>T , CM000673.1:g.1775111C>T | GRCh37 |
| NC_000011.8:g.1731687C>T | NCBI36 |
| NG_008655.1:g.15112G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.993G>A MANE Select | ENSP00000236671.2:p.Lys331= | |
| ENST00000367196.4:c.888G>A | ENSP00000356164.4:p.Lys296= | |
| ENST00000427721.3:c.418G>A | ||
| ENST00000429746.2:c.888G>A | ENSP00000402586.2:p.Lys296= | |
| ENST00000433655.6:c.*159G>A | ENSP00000404902.1:n.*159G>A | |
| ENST00000438213.6:c.1110G>A | ENSP00000415036.2:p.Lys370= | |
| ENST00000497544.3:n.701G>A | ||
| ENST00000636397.1:c.993G>A | ENSP00000489910.1:p.Lys331= | |
| ENST00000636571.1:c.972G>A | ENSP00000490770.1:p.Lys324= | |
| ENST00000636615.1:c.993G>A | ENSP00000490014.1:p.Lys331= | |
| ENST00000636843.1:c.987G>A | ENSP00000490897.1:p.Lys329= | |
| ENST00000637158.1:n.591G>A | ||
| ENST00000637381.2:n.3421G>A | ||
| ENST00000637387.1:c.973-1G>A | ENSP00000490598.1:n.973-1G>A | |
| ENST00000637815.2:c.975G>A | ENSP00000490344.1:p.Lys325= | |
| ENST00000637915.1:c.993G>A | ENSP00000490471.1:p.Lys331= | |
| ENST00000637937.1:n.301G>A | ||
| ENST00000678991.1:c.*854G>A | ENSP00000503019.1:n.*854G>A | |
| ENST00000236671.6:c.993G>A | ENSP00000236671.2:p.Lys331= | |
| ENST00000427721.2:c.393G>A | ENSP00000415840.2:p.Lys131= | |
| ENST00000429746.1:c.324G>A | ENSP00000402586.1:p.Lys108= | |
| ENST00000433655.5:c.*159G>A | ENSP00000404902.1:n.*159G>A | |
| ENST00000497544.1:n.701G>A | ||
| NM_001909.4:c.993G>A | NP_001900.1:p.Lys331= | |
| NM_001909.5:c.993G>A MANE Select | NP_001900.1:p.Lys331= |