Linked Data
dbSNP Id:
rs781583846
ExAC:
10:96748741 G / A
gnomAD v2:
10-96748741-G-A
gnomAD v3:
10-94988984-G-A
gnomAD v4:
10-94988984-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988984G>A , CM000672.2:g.94988984G>A | GRCh38 |
| NC_000010.10:g.96748741G>A , CM000672.1:g.96748741G>A | GRCh37 |
| NC_000010.9:g.96738731G>A | NCBI36 |
| NG_008385.1:g.55327G>A | |
| NG_008385.2:g.55827G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1429G>A MANE Select | ENSP00000260682.6:p.Ala477Thr | |
| ENST00000643112.1:c.*438G>A | ENSP00000496202.1:n.*438G>A | |
| ENST00000260682.6:c.1429G>A | ENSP00000260682.6:p.Ala477Thr | |
| NM_000771.3:c.1429G>A | NP_000762.2:p.Ala477Thr | |
| NM_000771.4:c.1429G>A MANE Select | NP_000762.2:p.Ala477Thr |