Linked Data
dbSNP Id:
rs548839205
ExAC:
10:131565092 G / A
gnomAD v2:
10-131565092-G-A
gnomAD v3:
10-129766828-G-A
gnomAD v4:
10-129766828-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129766828G>A , CM000672.2:g.129766828G>A | GRCh38 |
| NC_000010.10:g.131565092G>A , CM000672.1:g.131565092G>A | GRCh37 |
| NC_000010.9:g.131455082G>A | NCBI36 |
| NG_052673.1:g.304645G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.548G>A | ENSP00000302111.7:p.Ser183Asn | |
| ENST00000651593.1:c.455G>A MANE Select | ENSP00000498729.1:p.Ser152Asn | |
| ENST00000306010.7:c.548G>A | ENSP00000302111.7:p.Ser183Asn | |
| NM_002412.3:c.548G>A | NP_002403.2:p.Ser183Asn | |
| NM_002412.4:c.548G>A | NP_002403.2:p.Ser183Asn | |
| XM_005252682.2:c.455G>A | XP_005252739.1:p.Ser152Asn | |
| XM_006717863.2:c.278G>A | XP_006717926.1:p.Ser93Asn | |
| XM_011539817.1:c.464G>A | XP_011538119.1:p.Ser155Asn | |
| NM_002412.5:c.455G>A MANE Select | NP_002403.3:p.Ser152Asn | |
| XM_017016275.1:c.278G>A | XP_016871764.1:p.Ser93Asn |