Linked Data
dbSNP Id:
rs780854590
ExAC:
16:4812674 C / T
gnomAD v2:
16-4812674-C-T
gnomAD v4:
16-4762673-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4762673C>T , CM000678.2:g.4762673C>T | GRCh38 |
| NC_000016.9:g.4812674C>T , CM000678.1:g.4812674C>T | GRCh37 |
| NC_000016.8:g.4752675C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219478.11:c.498G>A MANE Select | ENSP00000219478.5:p.Glu166= | |
| ENST00000219478.10:c.498G>A | ENSP00000219478.5:p.Glu166= | |
| ENST00000545009.1:c.498G>A | ENSP00000445714.1:p.Glu166= | |
| ENST00000589422.1:c.*26G>A | ENSP00000466375.1:n.*26G>A | |
| NM_001303450.1:c.498G>A | NP_001290379.1:p.Glu166= | |
| NM_021646.2:c.498G>A | NP_067678.1:p.Glu166= | |
| XM_005255243.2:c.147G>A | XP_005255300.1:p.Glu49= | |
| XM_011522453.1:c.498G>A | XP_011520755.1:p.Glu166= | |
| XM_011522454.1:c.-127G>A | XP_011520756.1:n.-127G>A | |
| NM_021646.3:c.498G>A | NP_067678.1:p.Glu166= | |
| XM_005255243.4:c.147G>A | XP_005255300.1:p.Glu49= | |
| XM_011522453.2:c.498G>A | XP_011520755.1:p.Glu166= | |
| XM_011522454.3:c.-127G>A | XP_011520756.1:n.-127G>A | |
| XM_017023121.2:c.-127G>A | XP_016878610.1:n.-127G>A | |
| NM_001303450.2:c.498G>A | NP_001290379.1:p.Glu166= | |
| NM_021646.4:c.498G>A MANE Select | NP_067678.1:p.Glu166= |