Linked Data
ClinVar Variation Id:
940844
ClinVar RCV Id:
RCV001210515
dbSNP Id:
rs754591267
ExAC:
21:47404269 G / T
gnomAD v2:
21-47404269-G-T
gnomAD v4:
21-45984355-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984355G>T , CM000683.2:g.45984355G>T | GRCh38 |
| NC_000021.8:g.47404269G>T , CM000683.1:g.47404269G>T | GRCh37 |
| NC_000021.7:g.46228697G>T | NCBI36 |
| NG_008674.1:g.7607G>T , LRG_475:g.7607G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.314G>T MANE Select | ENSP00000355180.3:p.Arg105Leu | |
| ENST00000361866.7:c.314G>T | ENSP00000355180.3:p.Arg105Leu | |
| ENST00000612273.1:c.314G>T | ENSP00000483630.1:p.Arg105Leu | |
| NM_001848.2:c.314G>T , LRG_475t1:c.314G>T | NP_001839.2:p.Arg105Leu | |
| NM_001848.3:c.314G>T MANE Select | NP_001839.2:p.Arg105Leu |