Linked Data
ClinVar Variation Id:
2929620
ClinVar RCV Id:
RCV003784786
dbSNP Id:
rs2143110660
gnomAD v4:
17-42543476-A-G
MyVariant Identifiers:
chr17:g.40695494A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543476A>G , CM000679.2:g.42543476A>G | GRCh38 |
| NC_000017.10:g.40695494A>G , CM000679.1:g.40695494A>G | GRCh37 |
| NC_000017.9:g.37949020A>G | NCBI36 |
| NG_011552.1:g.12544A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1470A>G MANE Select | ENSP00000225927.1:p.Ala490= | |
| ENST00000225927.6:c.1470A>G | ENSP00000225927.1:p.Ala490= | |
| ENST00000591587.1:c.808A>G | ENSP00000467836.1:n.808A>G | |
| ENST00000592454.1:c.509A>G | ||
| NM_000263.3:c.1470A>G | NP_000254.2:p.Ala490= | |
| XM_006721920.2:c.639A>G | XP_006721983.1:p.Ala213= | |
| XM_011524840.1:c.471A>G | XP_011523142.1:p.Ala157= | |
| XM_017024687.1:c.639A>G | XP_016880176.1:p.Ala213= | |
| XM_024450771.1:c.1527A>G | XP_024306539.1:p.Ala509= | |
| XM_024450772.1:c.471A>G | XP_024306540.1:p.Ala157= | |
| NM_000263.4:c.1470A>G MANE Select | NP_000254.2:p.Ala490= |