Linked Data
ClinVar Variation Id:
341532
dbSNP Id:
rs374395918
ExAC:
22:36722640 C / T
gnomAD v2:
22-36722640-C-T
gnomAD v3:
22-36326595-C-T
gnomAD v4:
22-36326595-C-T
COSMIC:
COSM276217
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36326595C>T , CM000684.2:g.36326595C>T | GRCh38 |
| NC_000022.10:g.36722640C>T , CM000684.1:g.36722640C>T | GRCh37 |
| NC_000022.9:g.35052586C>T | NCBI36 |
| NG_011884.2:g.66424G>A , LRG_567:g.66424G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685187.1:n.799G>A | ||
| ENST00000685191.1:n.808G>A | ||
| ENST00000685801.1:c.585G>A | ENSP00000510688.1:p.Ala195= | |
| ENST00000688137.1:c.585G>A | ENSP00000510189.1:p.Ala195= | |
| ENST00000691296.1:c.585G>A | ENSP00000509816.1:p.Ala195= | |
| ENST00000691687.1:n.799G>A | ||
| ENST00000692930.1:n.799G>A | ||
| ENST00000216181.11:c.585G>A MANE Select | ENSP00000216181.6:p.Ala195= | |
| ENST00000216181.9:c.585G>A | ENSP00000216181.5:p.Ala195= | |
| ENST00000401701.1:c.585G>A | ENSP00000384631.1:p.Ala195= | |
| ENST00000463027.1:n.189G>A | ||
| NM_002473.5:c.585G>A , LRG_567t1:c.585G>A | NP_002464.1:p.Ala195= | |
| XM_011530197.1:c.585G>A | XP_011528499.1:p.Ala195= | |
| XM_011530197.2:c.585G>A | XP_011528499.1:p.Ala195= | |
| XM_017028803.1:c.585G>A | XP_016884292.1:p.Ala195= | |
| XM_017028804.1:c.585G>A | XP_016884293.1:p.Ala195= | |
| XM_017028805.1:c.585G>A | XP_016884294.1:p.Ala195= | |
| XM_017028806.1:c.585G>A | XP_016884295.1:p.Ala195= | |
| NM_002473.6:c.585G>A MANE Select | NP_002464.1:p.Ala195= |