Linked Data
ClinVar Variation Id:
1358200
ClinVar RCV Id:
RCV001864020
dbSNP Id:
rs150423825
gnomAD v4:
17-63941892-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941892C>G , CM000679.2:g.63941892C>G | GRCh38 |
| NC_000017.10:g.62019252C>G , CM000679.1:g.62019252C>G | GRCh37 |
| NC_000017.9:g.59372984C>G | NCBI36 |
| NG_011699.1:g.36027G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4390G>C MANE Select | ENSP00000396320.1:p.Gly1464Arg | |
| ENST00000578147.5:c.4390G>C | ENSP00000463963.1:p.Gly1464Arg | |
| NM_000334.4:c.4390G>C MANE Select | NP_000325.4:p.Gly1464Arg | |
| XM_005257566.3:c.4390G>C | XP_005257623.1:p.Gly1464Arg |