Linked Data
ClinVar Variation Id:
1643127
ClinVar RCV Id:
RCV002135884
dbSNP Id:
rs749704079
ExAC:
1:94508441 T / C
gnomAD v2:
1-94508441-T-C
gnomAD v3:
1-94042885-T-C
gnomAD v4:
1-94042885-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94042885T>C , CM000663.2:g.94042885T>C | GRCh38 |
| NC_000001.10:g.94508441T>C , CM000663.1:g.94508441T>C | GRCh37 |
| NC_000001.9:g.94281029T>C | NCBI36 |
| NG_009073.1:g.83265A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3204A>G MANE Select | ENSP00000359245.3:p.Arg1068= | |
| ENST00000370225.3:c.3204A>G | ENSP00000359245.3:p.Arg1068= | |
| ENST00000536513.5:c.-64-2796A>G | ENSP00000439707.2:n.-64-2796A>G | |
| NM_000350.2:c.3204A>G | NP_000341.2:p.Arg1068= | |
| NM_000350.3:c.3204A>G MANE Select | NP_000341.2:p.Arg1068= |