Linked Data
dbSNP Id:
rs753697359
ExAC:
17:4802084 C / T
gnomAD v2:
17-4802084-C-T
gnomAD v4:
17-4898789-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898789C>T , CM000679.2:g.4898789C>T | GRCh38 |
| NC_000017.10:g.4802084C>T , CM000679.1:g.4802084C>T | GRCh37 |
| NC_000017.9:g.4742863C>T | NCBI36 |
| NG_008029.2:g.9287G>A | |
| NG_028005.1:g.70450C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1429G>A MANE Select | ENSP00000497829.1:p.Ala477Thr | |
| ENST00000649830.1:c.*65G>A | ENSP00000496907.1:n.*65G>A | |
| ENST00000652550.1:n.1155G>A | ||
| ENST00000293780.4:c.1429G>A | ENSP00000293780.4:p.Ala477Thr | |
| ENST00000572438.1:n.1115G>A | ||
| NM_000080.3:c.1429G>A | NP_000071.1:p.Ala477Thr | |
| NM_000080.4:c.1429G>A MANE Select | NP_000071.1:p.Ala477Thr | |
| XM_017024115.1:c.1393G>A | XP_016879604.1:p.Ala465Thr |