Linked Data
ClinVar Variation Id:
502227
dbSNP Id:
rs753063150
ExAC:
21:47418076 C / T
gnomAD v2:
21-47418076-C-T
gnomAD v3:
21-45998162-C-T
gnomAD v4:
21-45998162-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45998162C>T , CM000683.2:g.45998162C>T | GRCh38 |
| NC_000021.8:g.47418076C>T , CM000683.1:g.47418076C>T | GRCh37 |
| NC_000021.7:g.46242504C>T | NCBI36 |
| NG_008674.1:g.21414C>T , LRG_475:g.21414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683550.1:n.341C>T | ||
| ENST00000361866.8:c.1566C>T MANE Select | ENSP00000355180.3:p.Pro522= | |
| ENST00000361866.7:c.1566C>T | ENSP00000355180.3:p.Pro522= | |
| ENST00000612273.1:c.1566C>T | ENSP00000483630.1:p.Pro522= | |
| NM_001848.2:c.1566C>T , LRG_475t1:c.1566C>T | NP_001839.2:p.Pro522= | |
| NM_001848.3:c.1566C>T MANE Select | NP_001839.2:p.Pro522= |