Linked Data
ClinVar Variation Id:
3027555
ClinVar RCV Id:
RCV003890809
dbSNP Id:
rs565752959
ExAC:
1:94463526 T / C
gnomAD v2:
1-94463526-T-C
gnomAD v3:
1-93997970-T-C
gnomAD v4:
1-93997970-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997970T>C , CM000663.2:g.93997970T>C | GRCh38 |
| NC_000001.10:g.94463526T>C , CM000663.1:g.94463526T>C | GRCh37 |
| NC_000001.9:g.94236114T>C | NCBI36 |
| NG_009073.1:g.128180A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6620A>G MANE Select | ENSP00000359245.3:p.Gln2207Arg | |
| ENST00000370225.3:c.6620A>G | ENSP00000359245.3:p.Gln2207Arg | |
| ENST00000536513.5:c.2996A>G | ENSP00000439707.2:p.Gln999Arg | |
| NM_000350.2:c.6620A>G | NP_000341.2:p.Gln2207Arg | |
| NM_000350.3:c.6620A>G MANE Select | NP_000341.2:p.Gln2207Arg |