Linked Data
ClinVar Variation Id:
3100118
ClinVar RCV Id:
RCV004393015
dbSNP Id:
rs769404917
gnomAD v3:
9-6556260-A-G
gnomAD v4:
9-6556260-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556260A>G , CM000671.2:g.6556260A>G | GRCh38 |
| NC_000009.11:g.6556260A>G , CM000671.1:g.6556260A>G | GRCh37 |
| NC_000009.10:g.6546260A>G | NCBI36 |
| NG_016397.1:g.94433T>C , LRG_643:g.94433T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2095T>C MANE Select | ENSP00000370737.4:p.Tyr699His | |
| ENST00000638233.1:n.530T>C | ||
| ENST00000638661.1:c.295T>C | ENSP00000491369.1:p.Tyr99His | |
| ENST00000638694.1:n.282T>C | ||
| ENST00000639318.1:c.295T>C | ENSP00000491932.1:p.Tyr99His | |
| ENST00000639364.1:n.1795T>C | ||
| ENST00000639443.1:n.1663T>C | ||
| ENST00000639954.1:n.1803T>C | ||
| ENST00000640505.1:n.334T>C | ||
| ENST00000321612.6:c.2095T>C | ENSP00000370737.3:p.Tyr699His | |
| NM_000170.2:c.2095T>C , LRG_643t1:c.2095T>C | NP_000161.2:p.Tyr699His | |
| NM_000170.3:c.2095T>C MANE Select | NP_000161.2:p.Tyr699His |