Linked Data
ClinVar Variation Id:
287602
dbSNP Id:
rs145517108
ExAC:
22:36708256 C / T
gnomAD v2:
22-36708256-C-T
gnomAD v3:
22-36312211-C-T
gnomAD v4:
22-36312211-C-T
COSMIC:
COSM4103836
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36312211C>T , CM000684.2:g.36312211C>T | GRCh38 |
| NC_000022.10:g.36708256C>T , CM000684.1:g.36708256C>T | GRCh37 |
| NC_000022.9:g.35038202C>T | NCBI36 |
| NG_011884.2:g.80808G>A , LRG_567:g.80808G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685187.1:n.1780G>A | ||
| ENST00000685801.1:c.1566G>A | ENSP00000510688.1:p.Pro522= | |
| ENST00000691109.1:n.1861G>A | ||
| ENST00000691687.1:n.2364G>A | ||
| ENST00000692930.1:n.1780G>A | ||
| ENST00000216181.11:c.1566G>A MANE Select | ENSP00000216181.6:p.Pro522= | |
| ENST00000216181.9:c.1566G>A | ENSP00000216181.5:p.Pro522= | |
| NM_002473.5:c.1566G>A , LRG_567t1:c.1566G>A | NP_002464.1:p.Pro522= | |
| XM_011530197.1:c.1566G>A | XP_011528499.1:p.Pro522= | |
| XM_011530197.2:c.1566G>A | XP_011528499.1:p.Pro522= | |
| XM_017028803.1:c.1566G>A | XP_016884292.1:p.Pro522= | |
| XM_017028804.1:c.1566G>A | XP_016884293.1:p.Pro522= | |
| XM_017028805.1:c.1566G>A | XP_016884294.1:p.Pro522= | |
| XM_017028806.1:c.1566G>A | XP_016884295.1:p.Pro522= | |
| NM_002473.6:c.1566G>A MANE Select | NP_002464.1:p.Pro522= |