Linked Data
dbSNP Id:
rs782450840
ExAC:
10:48389292 G / T
gnomAD v2:
10-48389292-G-T
gnomAD v4:
10-47350070-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350070C>A , CM000672.2:g.47350070C>A | GRCh38 |
| NC_000010.10:g.48389292G>T , CM000672.1:g.48389292G>T | GRCh37 |
| NC_000010.9:g.48009298G>T | NCBI36 |
| NG_029718.1:g.6700C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1586C>A MANE Select | ENSP00000463151.1:p.Pro529Gln | |
| ENST00000584701.1:c.1586C>A | ENSP00000463151.1:p.Pro529Gln | |
| NM_002900.2:c.1586C>A | NP_002891.1:p.Pro529Gln | |
| NM_002900.3:c.1586C>A MANE Select | NP_002891.1:p.Pro529Gln |