Linked Data
ClinVar Variation Id:
56074
dbSNP Id:
rs386833555
ExAC:
9:6553501 T / C
gnomAD v2:
9-6553501-T-C
gnomAD v4:
9-6553501-T-C
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6553501T>C , CM000671.2:g.6553501T>C | GRCh38 |
| NC_000009.11:g.6553501T>C , CM000671.1:g.6553501T>C | GRCh37 |
| NC_000009.10:g.6543501T>C | NCBI36 |
| NG_016397.1:g.97192A>G , LRG_643:g.97192A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2324A>G MANE Select | ENSP00000370737.4:p.His775Arg | |
| ENST00000638233.1:n.759A>G | ||
| ENST00000638661.1:c.524A>G | ENSP00000491369.1:p.His175Arg | |
| ENST00000638694.1:n.511A>G | ||
| ENST00000639318.1:c.524A>G | ENSP00000491932.1:p.His175Arg | |
| ENST00000639364.1:n.2024A>G | ||
| ENST00000639443.1:n.1892A>G | ||
| ENST00000639639.1:c.26A>G | ENSP00000491312.1:p.His9Arg | |
| ENST00000639954.1:n.2032A>G | ||
| ENST00000640505.1:n.563A>G | ||
| ENST00000321612.6:c.2324A>G | ENSP00000370737.3:p.His775Arg | |
| ENST00000467946.1:n.250A>G | ||
| NM_000170.2:c.2324A>G , LRG_643t1:c.2324A>G | NP_000161.2:p.His775Arg | |
| NM_000170.3:c.2324A>G MANE Select | NP_000161.2:p.His775Arg |