Linked Data
ClinVar Variation Id:
255968
dbSNP Id:
rs1884725
ExAC:
2:31571786 A / G
gnomAD v2:
2-31571786-A-G
gnomAD v3:
2-31348920-A-G
gnomAD v4:
2-31348920-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31348920A>G , CM000664.2:g.31348920A>G | GRCh38 |
| NC_000002.11:g.31571786A>G , CM000664.1:g.31571786A>G | GRCh37 |
| NC_000002.10:g.31425290A>G | NCBI36 |
| NG_008871.1:g.70826T>C | |
| NG_008871.2:g.70826T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379416.4:c.3030T>C MANE Select | ENSP00000368727.3:p.Phe1010= | |
| ENST00000379416.3:c.3030T>C | ENSP00000368727.3:p.Phe1010= | |
| NM_000379.3:c.3030T>C | NP_000370.2:p.Phe1010= | |
| XM_011533095.1:c.3027T>C | XP_011531397.1:p.Phe1009= | |
| XM_011533096.1:c.3030T>C | XP_011531398.1:p.Phe1010= | |
| XM_011533095.2:c.3027T>C | XP_011531397.1:p.Phe1009= | |
| XM_011533096.2:c.3030T>C | XP_011531398.1:p.Phe1010= | |
| NM_000379.4:c.3030T>C MANE Select | NP_000370.2:p.Phe1010= |