Linked Data
ClinVar Variation Id:
866870
dbSNP Id:
rs1046550021
gnomAD v2:
1-94496024-G-C
gnomAD v3:
1-94030468-G-C
gnomAD v4:
1-94030468-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030468G>C , CM000663.2:g.94030468G>C | GRCh38 |
| NC_000001.10:g.94496024G>C , CM000663.1:g.94496024G>C | GRCh37 |
| NC_000001.9:g.94268612G>C | NCBI36 |
| NG_009073.1:g.95682C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4312C>G MANE Select | ENSP00000359245.3:p.Pro1438Ala | |
| ENST00000370225.3:c.4312C>G | ENSP00000359245.3:p.Pro1438Ala | |
| ENST00000536513.5:c.688C>G | ENSP00000439707.2:p.Pro230Ala | |
| NM_000350.2:c.4312C>G | NP_000341.2:p.Pro1438Ala | |
| NM_000350.3:c.4312C>G MANE Select | NP_000341.2:p.Pro1438Ala |