Linked Data
ClinVar Variation Id:
195745
dbSNP Id:
rs781031251
ExAC:
21:47418085 C / T
gnomAD v2:
21-47418085-C-T
gnomAD v4:
21-45998171-C-T
COSMIC:
COSM6031729
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45998171C>T , CM000683.2:g.45998171C>T | GRCh38 |
| NC_000021.8:g.47418085C>T , CM000683.1:g.47418085C>T | GRCh37 |
| NC_000021.7:g.46242513C>T | NCBI36 |
| NG_008674.1:g.21423C>T , LRG_475:g.21423C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683550.1:n.350C>T | ||
| ENST00000361866.8:c.1575C>T MANE Select | ENSP00000355180.3:p.Pro525= | |
| ENST00000361866.7:c.1575C>T | ENSP00000355180.3:p.Pro525= | |
| ENST00000612273.1:c.1575C>T | ENSP00000483630.1:p.Pro525= | |
| NM_001848.2:c.1575C>T , LRG_475t1:c.1575C>T | NP_001839.2:p.Pro525= | |
| NM_001848.3:c.1575C>T MANE Select | NP_001839.2:p.Pro525= |