Linked Data
ClinVar Variation Id:
1387030
dbSNP Id:
rs749896033
ExAC:
8:10480258 G / C
gnomAD v2:
8-10480258-G-C
gnomAD v3:
8-10622748-G-C
gnomAD v4:
8-10622748-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622748G>C , CM000670.2:g.10622748G>C | GRCh38 |
| NC_000008.10:g.10480258G>C , CM000670.1:g.10480258G>C | GRCh37 |
| NC_000008.9:g.10517668G>C | NCBI36 |
| NG_028035.1:g.37360C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.454C>G MANE Select | ENSP00000371923.3:p.Arg152Gly | |
| ENST00000329335.3:n.704C>G | ||
| ENST00000382483.3:c.454C>G | ENSP00000371923.3:p.Arg152Gly | |
| NM_178857.5:c.454C>G | NP_849188.4:p.Arg152Gly | |
| NM_178857.6:c.454C>G MANE Select | NP_849188.4:p.Arg152Gly |