Linked Data
ClinVar Variation Id:
2183473
ClinVar RCV Id:
RCV002615530
dbSNP Id:
rs1377840004
gnomAD v2:
9-6556196-T-C
gnomAD v3:
9-6556196-T-C
gnomAD v4:
9-6556196-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556196T>C , CM000671.2:g.6556196T>C | GRCh38 |
| NC_000009.11:g.6556196T>C , CM000671.1:g.6556196T>C | GRCh37 |
| NC_000009.10:g.6546196T>C | NCBI36 |
| NG_016397.1:g.94497A>G , LRG_643:g.94497A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2159A>G MANE Select | ENSP00000370737.4:p.His720Arg | |
| ENST00000638233.1:n.594A>G | ||
| ENST00000638661.1:c.359A>G | ENSP00000491369.1:p.His120Arg | |
| ENST00000638694.1:n.346A>G | ||
| ENST00000639318.1:c.359A>G | ENSP00000491932.1:p.His120Arg | |
| ENST00000639364.1:n.1859A>G | ||
| ENST00000639443.1:n.1727A>G | ||
| ENST00000639954.1:n.1867A>G | ||
| ENST00000640505.1:n.398A>G | ||
| ENST00000321612.6:c.2159A>G | ENSP00000370737.3:p.His720Arg | |
| NM_000170.2:c.2159A>G , LRG_643t1:c.2159A>G | NP_000161.2:p.His720Arg | |
| NM_000170.3:c.2159A>G MANE Select | NP_000161.2:p.His720Arg |