Linked Data
ClinVar Variation Id:
330532
ClinVar RCV Id:
RCV000275462
dbSNP Id:
rs752794292
ExAC:
19:7620514 A / G
gnomAD v2:
19-7620514-A-G
gnomAD v3:
19-7555628-A-G
gnomAD v4:
19-7555628-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7555628A>G , CM000681.2:g.7555628A>G | GRCh38 |
| NC_000019.9:g.7620514A>G , CM000681.1:g.7620514A>G | GRCh37 |
| NC_000019.8:g.7526514A>G | NCBI36 |
| NG_013374.1:g.26477A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.2958A>G MANE Select | ENSP00000473211.1:p.Val986= | |
| ENST00000646984.1:c.129A>G | ENSP00000496219.1:p.Val43= | |
| ENST00000221249.10:c.2844A>G | ENSP00000221249.5:p.Val948= | |
| ENST00000414982.7:c.2988A>G | ENSP00000407509.2:p.Val996= | |
| ENST00000450331.7:c.2844A>G | ENSP00000394348.2:p.Val948= | |
| ENST00000545201.6:c.2763A>G | ENSP00000443323.1:p.Val921= | |
| ENST00000600737.5:c.2958A>G | ENSP00000473211.1:p.Val986= | |
| NM_001166111.1:c.2988A>G | NP_001159583.1:p.Val996= | |
| NM_001166112.1:c.2763A>G | NP_001159584.1:p.Val921= | |
| NM_001166113.1:c.2844A>G | NP_001159585.1:p.Val948= | |
| NM_001166114.1:c.2958A>G | NP_001159586.1:p.Val986= | |
| NM_006702.4:c.2844A>G | NP_006693.3:p.Val948= | |
| NM_001166111.2:c.2988A>G | NP_001159583.1:p.Val996= | |
| NM_001166114.2:c.2958A>G MANE Select | NP_001159586.1:p.Val986= | |
| NM_006702.5:c.2844A>G | NP_006693.3:p.Val948= | |
| NM_001166112.2:c.2763A>G | NP_001159584.1:p.Val921= |