Linked Data
dbSNP Id:
rs104893756
ExAC:
3:87311353 C / T
gnomAD v2:
3-87311353-C-T
gnomAD v3:
3-87262203-C-T
gnomAD v4:
3-87262203-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87262203C>T , CM000665.2:g.87262203C>T | GRCh38 |
| NC_000003.11:g.87311353C>T , CM000665.1:g.87311353C>T | GRCh37 |
| NC_000003.10:g.87394043C>T | NCBI36 |
| NG_008225.2:g.19385G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.550G>A | ENSP00000342931.3:p.Ala184Thr | |
| ENST00000350375.7:c.472G>A MANE Select | ENSP00000263781.2:p.Ala158Thr | |
| ENST00000344265.7:c.550G>A | ENSP00000342931.3:p.Ala184Thr | |
| ENST00000350375.6:c.472G>A | ENSP00000263781.2:p.Ala158Thr | |
| ENST00000560656.1:c.439+2085G>A | ENSP00000452610.1:n.439+2085G>A | |
| ENST00000561167.5:c.247G>A | ENSP00000454072.1:p.Ala83Thr | |
| NM_000306.3:c.472G>A | NP_000297.1:p.Ala158Thr | |
| NM_001122757.2:c.550G>A | NP_001116229.1:p.Ala184Thr | |
| NM_000306.4:c.472G>A MANE Select | NP_000297.1:p.Ala158Thr | |
| NM_001122757.3:c.550G>A | NP_001116229.1:p.Ala184Thr |