Linked Data
ClinVar Variation Id:
387487
dbSNP Id:
rs138976133
ExAC:
21:47422285 G / T
gnomAD v2:
21-47422285-G-T
gnomAD v3:
21-46002371-G-T
gnomAD v4:
21-46002371-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46002371G>T , CM000683.2:g.46002371G>T | GRCh38 |
| NC_000021.8:g.47422285G>T , CM000683.1:g.47422285G>T | GRCh37 |
| NC_000021.7:g.46246713G>T | NCBI36 |
| NG_008674.1:g.25623G>T , LRG_475:g.25623G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.619G>T | ||
| ENST00000612273.2:c.346G>T | ||
| ENST00000682634.1:c.346G>T | ||
| ENST00000361866.8:c.2220G>T MANE Select | ENSP00000355180.3:p.Pro740= | |
| ENST00000361866.7:c.2220G>T | ENSP00000355180.3:p.Pro740= | |
| ENST00000463060.5:n.619G>T | ||
| ENST00000498614.5:n.454G>T | ||
| ENST00000612273.1:c.2214G>T | ENSP00000483630.1:p.Pro738= | |
| NM_001848.2:c.2220G>T , LRG_475t1:c.2220G>T | NP_001839.2:p.Pro740= | |
| NM_001848.3:c.2220G>T MANE Select | NP_001839.2:p.Pro740= |