Linked Data
ClinVar Variation Id:
205499
ClinVar RCV Id:
RCV000187473
dbSNP Id:
rs148410675
ExAC:
14:29237924 A / G
gnomAD v2:
14-29237924-A-G
gnomAD v4:
14-28768718-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768718A>G , CM000676.2:g.28768718A>G | GRCh38 |
| NC_000014.8:g.29237924A>G , CM000676.1:g.29237924A>G | GRCh37 |
| NC_000014.7:g.28307675A>G | NCBI36 |
| NG_009367.1:g.6638A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706482.1:c.1439A>G | ENSP00000516406.1:p.Gln480Arg | |
| ENST00000313071.7:c.1439A>G MANE Select | ENSP00000339004.3:p.Gln480Arg | |
| ENST00000313071.6:c.1439A>G | ENSP00000339004.3:p.Gln480Arg | |
| NM_005249.4:c.1439A>G | NP_005240.3:p.Gln480Arg | |
| NM_005249.5:c.1439A>G MANE Select | NP_005240.3:p.Gln480Arg |