Linked Data
ClinVar Variation Id:
1079262
ClinVar RCV Id:
RCV001394485
dbSNP Id:
rs386833544
gnomAD v4:
9-6556159-A-G
MyVariant Identifiers:
chr9:g.6556159A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556159A>G , CM000671.2:g.6556159A>G | GRCh38 |
| NC_000009.11:g.6556159A>G , CM000671.1:g.6556159A>G | GRCh37 |
| NC_000009.10:g.6546159A>G | NCBI36 |
| NG_016397.1:g.94534T>C , LRG_643:g.94534T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2196T>C MANE Select | ENSP00000370737.4:p.Asn732= | |
| ENST00000638233.1:n.631T>C | ||
| ENST00000638661.1:c.396T>C | ENSP00000491369.1:p.Asn132= | |
| ENST00000638694.1:n.383T>C | ||
| ENST00000639318.1:c.396T>C | ENSP00000491932.1:p.Asn132= | |
| ENST00000639364.1:n.1896T>C | ||
| ENST00000639443.1:n.1764T>C | ||
| ENST00000639954.1:n.1904T>C | ||
| ENST00000640505.1:n.435T>C | ||
| ENST00000321612.6:c.2196T>C | ENSP00000370737.3:p.Asn732= | |
| NM_000170.2:c.2196T>C , LRG_643t1:c.2196T>C | NP_000161.2:p.Asn732= | |
| NM_000170.3:c.2196T>C MANE Select | NP_000161.2:p.Asn732= |