Linked Data
ClinVar Variation Id:
361407
dbSNP Id:
rs182807255
ExAC:
8:10480224 C / T
gnomAD v2:
8-10480224-C-T
gnomAD v3:
8-10622714-C-T
gnomAD v4:
8-10622714-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622714C>T , CM000670.2:g.10622714C>T | GRCh38 |
| NC_000008.10:g.10480224C>T , CM000670.1:g.10480224C>T | GRCh37 |
| NC_000008.9:g.10517634C>T | NCBI36 |
| NG_028035.1:g.37394G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.488G>A MANE Select | ENSP00000371923.3:p.Arg163His | |
| ENST00000329335.3:n.738G>A | ||
| ENST00000382483.3:c.488G>A | ENSP00000371923.3:p.Arg163His | |
| NM_178857.5:c.488G>A | NP_849188.4:p.Arg163His | |
| NM_178857.6:c.488G>A MANE Select | NP_849188.4:p.Arg163His |