Linked Data
ClinVar Variation Id:
2928680
ClinVar RCV Id:
RCV003789454
dbSNP Id:
rs1013345784
gnomAD v2:
17-40688292-T-G
gnomAD v3:
17-42536274-T-G
gnomAD v4:
17-42536274-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536274T>G , CM000679.2:g.42536274T>G | GRCh38 |
| NC_000017.10:g.40688292T>G , CM000679.1:g.40688292T>G | GRCh37 |
| NC_000017.9:g.37941818T>G | NCBI36 |
| NG_011552.1:g.5342T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.2T>G MANE Select | ENSP00000225927.1:p.Met1Arg | |
| ENST00000225927.6:c.2T>G | ENSP00000225927.1:p.Met1Arg | |
| NM_000263.3:c.2T>G | NP_000254.2:p.Met1Arg | |
| XM_024450771.1:c.2T>G | XP_024306539.1:p.Met1Arg | |
| NM_000263.4:c.2T>G MANE Select | NP_000254.2:p.Met1Arg |