Linked Data
ClinVar Variation Id:
2892658
ClinVar RCV Id:
RCV003725541
dbSNP Id:
rs746727981
ExAC:
1:197062353 T / C
gnomAD v2:
1-197062353-T-C
gnomAD v3:
1-197093223-T-C
gnomAD v4:
1-197093223-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197093223T>C , CM000663.2:g.197093223T>C | GRCh38 |
| NC_000001.10:g.197062353T>C , CM000663.1:g.197062353T>C | GRCh37 |
| NC_000001.9:g.195328976T>C | NCBI36 |
| NG_015867.1:g.58472A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2410A>G | ||
| ENST00000367409.9:c.9123A>G MANE Select | ENSP00000356379.4:p.Arg3041= | |
| ENST00000680265.1:c.9345A>G | ENSP00000505384.1:p.Arg3115= | |
| ENST00000680710.1:c.9123A>G | ENSP00000506676.1:p.Arg3041= | |
| ENST00000294732.11:c.4368A>G | ENSP00000294732.7:p.Arg1456= | |
| ENST00000367408.5:c.2118A>G | ENSP00000356378.1:p.Arg706= | |
| ENST00000367409.8:c.9123A>G | ENSP00000356379.4:p.Arg3041= | |
| ENST00000612785.1:c.3081A>G | ENSP00000479244.1:p.Arg1027= | |
| NM_001206846.1:c.4368A>G | NP_001193775.1:p.Arg1456= | |
| NM_018136.4:c.9123A>G | NP_060606.3:p.Arg3041= | |
| NM_018136.5:c.9123A>G MANE Select | NP_060606.3:p.Arg3041= | |
| NM_001206846.2:c.4368A>G | NP_001193775.1:p.Arg1456= |