Linked Data
ClinVar Variation Id:
2442241
ClinVar RCV Id:
RCV003148578
dbSNP Id:
rs104893881
gnomAD v2:
4-6303977-C-G
gnomAD v3:
4-6302250-C-G
gnomAD v4:
4-6302250-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302250C>G , CM000666.2:g.6302250C>G | GRCh38 |
| NC_000004.11:g.6303977C>G , CM000666.1:g.6303977C>G | GRCh37 |
| NC_000004.10:g.6354878C>G | NCBI36 |
| NG_011700.1:g.37401C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682275.1:c.2491C>G | ENSP00000507852.1:p.Gln831Glu | |
| ENST00000683395.1:c.2432C>G | ||
| ENST00000684087.1:c.2455C>G | ENSP00000506978.1:p.Gln819Glu | |
| ENST00000506362.2:c.2206C>G | ENSP00000424103.2:p.Gln736Glu | |
| ENST00000673991.1:c.2491C>G | ENSP00000501033.1:p.Gln831Glu | |
| ENST00000226760.5:c.2455C>G MANE Select | ENSP00000226760.1:p.Gln819Glu | |
| ENST00000503569.5:c.2455C>G | ENSP00000423337.1:p.Gln819Glu | |
| ENST00000507765.1:n.2640C>G | ||
| NM_001145853.1:c.2455C>G | NP_001139325.1:p.Gln819Glu | |
| NM_006005.3:c.2455C>G MANE Select | NP_005996.2:p.Gln819Glu | |
| XM_017008586.1:c.2464C>G | XP_016864075.1:p.Gln822Glu |