Linked Data
dbSNP Id:
rs777906928
ExAC:
2:233398839 A / G
gnomAD v2:
2-233398839-A-G
gnomAD v4:
2-232534129-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232534129A>G , CM000664.2:g.232534129A>G | GRCh38 |
| NC_000002.11:g.233398839A>G , CM000664.1:g.233398839A>G | GRCh37 |
| NC_000002.10:g.233107083A>G | NCBI36 |
| NG_008028.1:g.12918A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1246A>G MANE Select | ENSP00000258385.3:p.Thr416Ala | |
| ENST00000258385.7:c.1246A>G | ENSP00000258385.3:p.Thr416Ala | |
| ENST00000441621.6:c.*428A>G | ENSP00000408819.2:n.*428A>G | |
| ENST00000446616.1:c.*887A>G | ENSP00000410801.1:n.*887A>G | |
| ENST00000543200.5:c.1201A>G | ENSP00000438380.1:p.Thr401Ala | |
| NM_000751.2:c.1246A>G | NP_000742.1:p.Thr416Ala | |
| NM_001256657.1:c.1201A>G | NP_001243586.1:p.Thr401Ala | |
| NM_001311195.1:c.664A>G | NP_001298124.1:p.Thr222Ala | |
| NM_001311196.1:c.943A>G | NP_001298125.1:p.Thr315Ala | |
| NR_046333.1:c.-4294966305A>G | ||
| NR_046334.1:c.-4294966026A>G | ||
| XM_011510524.1:c.865A>G | XP_011508826.1:p.Thr289Ala | |
| XM_011510524.2:c.865A>G | XP_011508826.1:p.Thr289Ala | |
| NM_000751.3:c.1246A>G MANE Select | NP_000742.1:p.Thr416Ala | |
| NM_001311195.2:c.664A>G | NP_001298124.1:p.Thr222Ala | |
| NM_001311196.2:c.943A>G | NP_001298125.1:p.Thr315Ala | |
| NM_001256657.2:c.1201A>G | NP_001243586.1:p.Thr401Ala |