Linked Data
ClinVar Variation Id:
646176
ClinVar RCV Id:
RCV000800409
dbSNP Id:
rs749513146
ExAC:
9:6558587 T / G
gnomAD v2:
9-6558587-T-G
gnomAD v3:
9-6558587-T-G
gnomAD v4:
9-6558587-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558587T>G , CM000671.2:g.6558587T>G | GRCh38 |
| NC_000009.11:g.6558587T>G , CM000671.1:g.6558587T>G | GRCh37 |
| NC_000009.10:g.6548587T>G | NCBI36 |
| NG_016397.1:g.92106A>C , LRG_643:g.92106A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2024A>C MANE Select | ENSP00000370737.4:p.Asn675Thr | |
| ENST00000460457.2:n.184A>C | ||
| ENST00000638233.1:n.459A>C | ||
| ENST00000638661.1:c.224A>C | ENSP00000491369.1:p.Asn75Thr | |
| ENST00000638694.1:n.211A>C | ||
| ENST00000639318.1:c.224A>C | ENSP00000491932.1:p.Asn75Thr | |
| ENST00000639364.1:n.1724A>C | ||
| ENST00000639443.1:n.1592A>C | ||
| ENST00000639954.1:n.1732A>C | ||
| ENST00000640208.1:c.224A>C | ENSP00000491895.1:p.Asn75Thr | |
| ENST00000640505.1:n.263A>C | ||
| ENST00000640592.1:n.1907A>C | ||
| ENST00000321612.6:c.2024A>C | ENSP00000370737.3:p.Asn675Thr | |
| ENST00000460457.1:n.163A>C | ||
| NM_000170.2:c.2024A>C , LRG_643t1:c.2024A>C | NP_000161.2:p.Asn675Thr | |
| NM_000170.3:c.2024A>C MANE Select | NP_000161.2:p.Asn675Thr |