Linked Data
ClinVar Variation Id:
703558
ClinVar RCV Id:
RCV000873227
dbSNP Id:
rs375448277
ExAC:
21:47421294 G / A
gnomAD v2:
21-47421294-G-A
gnomAD v3:
21-46001380-G-A
gnomAD v4:
21-46001380-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001380G>A , CM000683.2:g.46001380G>A | GRCh38 |
| NC_000021.8:g.47421294G>A , CM000683.1:g.47421294G>A | GRCh37 |
| NC_000021.7:g.46245722G>A | NCBI36 |
| NG_008674.1:g.24632G>A , LRG_475:g.24632G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.349G>A | ||
| ENST00000612273.2:c.76G>A | ||
| ENST00000682634.1:c.76G>A | ||
| ENST00000361866.8:c.1950G>A MANE Select | ENSP00000355180.3:p.Leu650= | |
| ENST00000361866.7:c.1950G>A | ENSP00000355180.3:p.Leu650= | |
| ENST00000463060.5:n.349G>A | ||
| ENST00000498614.5:n.184G>A | ||
| ENST00000612273.1:c.1944G>A | ENSP00000483630.1:p.Leu648= | |
| NM_001848.2:c.1950G>A , LRG_475t1:c.1950G>A | NP_001839.2:p.Leu650= | |
| NM_001848.3:c.1950G>A MANE Select | NP_001839.2:p.Leu650= |