Linked Data
ClinVar Variation Id:
330517
ClinVar RCV Id:
RCV000389421
dbSNP Id:
rs368637145
ExAC:
19:7605200 T / G
gnomAD v2:
19-7605200-T-G
gnomAD v3:
19-7540314-T-G
gnomAD v4:
19-7540314-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7540314T>G , CM000681.2:g.7540314T>G | GRCh38 |
| NC_000019.9:g.7605200T>G , CM000681.1:g.7605200T>G | GRCh37 |
| NC_000019.8:g.7511200T>G | NCBI36 |
| NG_013374.1:g.11163T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.714+6T>G MANE Select | ENSP00000473211.1:n.714+6T>G | |
| ENST00000221249.10:c.597+6T>G | ENSP00000221249.5:n.597+6T>G | |
| ENST00000414982.7:c.741+6T>G | ENSP00000407509.2:n.741+6T>G | |
| ENST00000450331.7:c.597+6T>G | ENSP00000394348.2:n.597+6T>G | |
| ENST00000545201.6:c.597+6T>G | ENSP00000443323.1:n.597+6T>G | |
| ENST00000594551.1:c.181+6T>G | ||
| ENST00000595264.5:c.236+6T>G | ||
| ENST00000598462.1:n.505+6T>G | ||
| ENST00000600737.5:c.714+6T>G | ENSP00000473211.1:n.714+6T>G | |
| NM_001166111.1:c.741+6T>G | NP_001159583.1:n.741+6T>G | |
| NM_001166112.1:c.597+6T>G | NP_001159584.1:n.597+6T>G | |
| NM_001166113.1:c.597+6T>G | NP_001159585.1:n.597+6T>G | |
| NM_001166114.1:c.714+6T>G | NP_001159586.1:n.714+6T>G | |
| NM_006702.4:c.597+6T>G | NP_006693.3:n.597+6T>G | |
| NM_001166111.2:c.741+6T>G | NP_001159583.1:n.741+6T>G | |
| NM_001166114.2:c.714+6T>G MANE Select | NP_001159586.1:n.714+6T>G | |
| NM_006702.5:c.597+6T>G | NP_006693.3:n.597+6T>G | |
| NM_001166112.2:c.597+6T>G | NP_001159584.1:n.597+6T>G |