Linked Data
ClinVar Variation Id:
970439
dbSNP Id:
rs764935677
ExAC:
17:4802089 A / T
gnomAD v2:
17-4802089-A-T
gnomAD v4:
17-4898794-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898794A>T , CM000679.2:g.4898794A>T | GRCh38 |
| NC_000017.10:g.4802089A>T , CM000679.1:g.4802089A>T | GRCh37 |
| NC_000017.9:g.4742868A>T | NCBI36 |
| NG_008029.2:g.9282T>A | |
| NG_028005.1:g.70455A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1424T>A MANE Select | ENSP00000497829.1:p.Leu475His | |
| ENST00000649830.1:c.*60T>A | ENSP00000496907.1:n.*60T>A | |
| ENST00000652550.1:n.1150T>A | ||
| ENST00000293780.4:c.1424T>A | ENSP00000293780.4:p.Leu475His | |
| ENST00000572438.1:n.1110T>A | ||
| NM_000080.3:c.1424T>A | NP_000071.1:p.Leu475His | |
| NM_000080.4:c.1424T>A MANE Select | NP_000071.1:p.Leu475His | |
| XM_017024115.1:c.1388T>A | XP_016879604.1:p.Leu463His |