Linked Data
dbSNP Id:
rs746436329
ExAC:
8:10480122 T / A
gnomAD v2:
8-10480122-T-A
gnomAD v4:
8-10622612-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622612T>A , CM000670.2:g.10622612T>A | GRCh38 |
| NC_000008.10:g.10480122T>A , CM000670.1:g.10480122T>A | GRCh37 |
| NC_000008.9:g.10517532T>A | NCBI36 |
| NG_028035.1:g.37496A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.590A>T MANE Select | ENSP00000371923.3:p.Tyr197Phe | |
| ENST00000329335.3:n.840A>T | ||
| ENST00000382483.3:c.590A>T | ENSP00000371923.3:p.Tyr197Phe | |
| NM_178857.5:c.590A>T | NP_849188.4:p.Tyr197Phe | |
| NM_178857.6:c.590A>T MANE Select | NP_849188.4:p.Tyr197Phe |