Linked Data
ClinVar Variation Id:
543797
ClinVar RCV Id:
RCV000654648
dbSNP Id:
rs1357732381
gnomAD v2:
17-62022047-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63944687G>C , CM000679.2:g.63944687G>C | GRCh38 |
| NC_000017.10:g.62022047G>C , CM000679.1:g.62022047G>C | GRCh37 |
| NC_000017.9:g.59375779G>C | NCBI36 |
| NG_011699.1:g.33232C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3898C>G MANE Select | ENSP00000396320.1:p.Gln1300Glu | |
| ENST00000578147.5:c.3898C>G | ENSP00000463963.1:p.Gln1300Glu | |
| NM_000334.4:c.3898C>G MANE Select | NP_000325.4:p.Gln1300Glu | |
| XM_005257566.3:c.3898C>G | XP_005257623.1:p.Gln1300Glu |