Linked Data
dbSNP Id:
rs770332042
ExAC:
8:10480123 A / G
gnomAD v2:
8-10480123-A-G
gnomAD v3:
8-10622613-A-G
gnomAD v4:
8-10622613-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622613A>G , CM000670.2:g.10622613A>G | GRCh38 |
| NC_000008.10:g.10480123A>G , CM000670.1:g.10480123A>G | GRCh37 |
| NC_000008.9:g.10517533A>G | NCBI36 |
| NG_028035.1:g.37495T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.589T>C MANE Select | ENSP00000371923.3:p.Tyr197His | |
| ENST00000329335.3:n.839T>C | ||
| ENST00000382483.3:c.589T>C | ENSP00000371923.3:p.Tyr197His | |
| NM_178857.5:c.589T>C | NP_849188.4:p.Tyr197His | |
| NM_178857.6:c.589T>C MANE Select | NP_849188.4:p.Tyr197His |