Linked Data
dbSNP Id:
rs917315960
gnomAD v2:
17-29283400-A-G
gnomAD v3:
17-30956382-A-G
gnomAD v4:
17-30956382-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30956382A>G , CM000679.2:g.30956382A>G | GRCh38 |
| NC_000017.10:g.29283400A>G , CM000679.1:g.29283400A>G | GRCh37 |
| NC_000017.9:g.26307526A>G | NCBI36 |
| NG_051975.1:g.39647A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330889.8:c.1024A>G MANE Select | ENSP00000329468.3:p.Thr342Ala | |
| ENST00000330889.7:c.1024A>G | ENSP00000329468.3:p.Thr342Ala | |
| ENST00000470962.1:n.444A>G | ||
| ENST00000480980.1:n.458A>G | ||
| ENST00000580525.5:c.1042A>G | ENSP00000464121.1:p.Thr348Ala | |
| ENST00000581285.5:c.940A>G | ENSP00000464155.1:p.Thr314Ala | |
| ENST00000584828.5:c.393A>G | ||
| ENST00000585130.5:c.*623A>G | ENSP00000464120.1:n.*623A>G | |
| NM_018404.2:c.1024A>G | NP_060874.1:p.Thr342Ala | |
| XM_005258008.2:c.1042A>G | XP_005258065.1:p.Thr348Ala | |
| XM_005258011.2:c.979A>G | XP_005258068.1:p.Thr327Ala | |
| XM_006721973.2:c.1042A>G | XP_006722036.1:p.Thr348Ala | |
| XM_011524993.1:c.1039A>G | XP_011523295.1:p.Thr347Ala | |
| XM_011524994.1:c.1021A>G | XP_011523296.1:p.Thr341Ala | |
| NM_001346712.1:c.1042A>G | NP_001333641.1:p.Thr348Ala | |
| NM_001346714.1:c.1021A>G | NP_001333643.1:p.Thr341Ala | |
| NM_001346716.1:c.1024A>G | NP_001333645.1:p.Thr342Ala | |
| NR_144488.1:n.1223A>G | ||
| XM_024450831.1:c.1024A>G | XP_024306599.1:p.Thr342Ala | |
| XM_024450832.1:c.1039A>G | XP_024306600.1:p.Thr347Ala | |
| XM_024450833.1:c.979A>G | XP_024306601.1:p.Thr327Ala | |
| XM_024450834.1:c.1042A>G | XP_024306602.1:p.Thr348Ala | |
| XM_024450835.1:c.658A>G | XP_024306603.1:p.Thr220Ala | |
| NM_018404.3:c.1024A>G MANE Select | NP_060874.1:p.Thr342Ala | |
| NM_001346712.2:c.1042A>G | NP_001333641.1:p.Thr348Ala | |
| NM_001346714.2:c.1021A>G | NP_001333643.1:p.Thr341Ala | |
| NM_001346716.2:c.1024A>G | NP_001333645.1:p.Thr342Ala | |
| NR_144488.2:n.1014A>G |