Linked Data
ClinVar Variation Id:
330512
ClinVar RCV Id:
RCV001848671
dbSNP Id:
rs35732838
ExAC:
19:7600857 G / A
gnomAD v2:
19-7600857-G-A
gnomAD v3:
19-7535971-G-A
gnomAD v4:
19-7535971-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7535971G>A , CM000681.2:g.7535971G>A | GRCh38 |
| NC_000019.9:g.7600857G>A , CM000681.1:g.7600857G>A | GRCh37 |
| NC_000019.8:g.7506857G>A | NCBI36 |
| NG_013374.1:g.6820G>A | |
| NG_015806.1:g.18362G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000600737.6:c.183G>A MANE Select | ENSP00000473211.1:p.Val61= | |
| ENST00000221249.10:c.66G>A | ENSP00000221249.5:p.Val22= | |
| ENST00000414982.7:c.210G>A | ENSP00000407509.2:p.Val70= | |
| ENST00000450331.7:c.66G>A | ENSP00000394348.2:p.Val22= | |
| ENST00000545201.6:c.66G>A | ENSP00000443323.1:p.Val22= | |
| ENST00000593924.5:c.66G>A | ENSP00000469794.1:p.Val22= | |
| ENST00000596515.5:c.66G>A | ENSP00000470461.1:p.Val22= | |
| ENST00000600737.5:c.183G>A | ENSP00000473211.1:p.Val61= | |
| ENST00000600942.5:c.66G>A | ENSP00000472572.1:p.Val22= | |
| ENST00000601001.5:c.66G>A | ENSP00000472631.1:p.Val22= | |
| ENST00000601668.5:c.66G>A | ENSP00000470608.1:p.Val22= | |
| ENST00000601870.1:c.570G>A | ||
| NM_001166111.1:c.210G>A | NP_001159583.1:p.Val70= | |
| NM_001166112.1:c.66G>A | NP_001159584.1:p.Val22= | |
| NM_001166113.1:c.66G>A | NP_001159585.1:p.Val22= | |
| NM_001166114.1:c.183G>A | NP_001159586.1:p.Val61= | |
| NM_006702.4:c.66G>A | NP_006693.3:p.Val22= | |
| NM_001166111.2:c.210G>A | NP_001159583.1:p.Val70= | |
| NM_001166114.2:c.183G>A MANE Select | NP_001159586.1:p.Val61= | |
| NM_006702.5:c.66G>A | NP_006693.3:p.Val22= | |
| NM_001166112.2:c.66G>A | NP_001159584.1:p.Val22= |