Linked Data
dbSNP Id:
rs749135591
ExAC:
3:182870183 C / T
gnomAD v2:
3-182870183-C-T
gnomAD v4:
3-183152395-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183152395C>T , CM000665.2:g.183152395C>T | GRCh38 |
| NC_000003.11:g.182870183C>T , CM000665.1:g.182870183C>T | GRCh37 |
| NC_000003.10:g.184352877C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265598.8:c.868G>A MANE Select | ENSP00000265598.3:p.Val290Met | |
| ENST00000265598.7:c.868G>A | ENSP00000265598.3:p.Val290Met | |
| ENST00000466939.1:c.796G>A | ENSP00000418912.1:p.Val266Met | |
| NM_014398.3:c.868G>A | NP_055213.2:p.Val290Met | |
| XM_005247360.3:c.868G>A | XP_005247417.1:p.Val290Met | |
| XM_006713586.2:c.796G>A | XP_006713649.1:p.Val266Met | |
| XM_011512688.1:c.868G>A | XP_011510990.1:p.Val290Met | |
| XR_924123.1:n.928G>A | ||
| XR_924124.1:n.928G>A | ||
| XM_005247360.5:c.868G>A | XP_005247417.1:p.Val290Met | |
| XM_006713586.3:c.796G>A | XP_006713649.1:p.Val266Met | |
| XM_011512688.2:c.868G>A | XP_011510990.1:p.Val290Met | |
| XM_024453453.1:c.796G>A | XP_024309221.1:p.Val266Met | |
| NM_014398.4:c.868G>A MANE Select | NP_055213.2:p.Val290Met |