Linked Data
ClinVar Variation Id:
367187
ClinVar RCV Id:
RCV000344808
dbSNP Id:
rs779537709
ExAC:
9:6588657 T / C
gnomAD v2:
9-6588657-T-C
gnomAD v4:
9-6588657-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6588657T>C , CM000671.2:g.6588657T>C | GRCh38 |
| NC_000009.11:g.6588657T>C , CM000671.1:g.6588657T>C | GRCh37 |
| NC_000009.10:g.6578657T>C | NCBI36 |
| NG_016397.1:g.62036A>G , LRG_643:g.62036A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1626A>G MANE Select | ENSP00000370737.4:p.Glu542= | |
| ENST00000639364.1:n.1326A>G | ||
| ENST00000639443.1:n.1194A>G | ||
| ENST00000639954.1:n.1334A>G | ||
| ENST00000640592.1:n.1509A>G | ||
| ENST00000321612.6:c.1626A>G | ENSP00000370737.3:p.Glu542= | |
| NM_000170.2:c.1626A>G , LRG_643t1:c.1626A>G | NP_000161.2:p.Glu542= | |
| NM_000170.3:c.1626A>G MANE Select | NP_000161.2:p.Glu542= |