Linked Data
dbSNP Id:
rs1309490608
gnomAD v2:
22-19906524-G-A
gnomAD v3:
22-19919001-G-A
gnomAD v4:
22-19919001-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19919001G>A , CM000684.2:g.19919001G>A | GRCh38 |
| NC_000022.10:g.19906524G>A , CM000684.1:g.19906524G>A | GRCh37 |
| NC_000022.9:g.18286524G>A | NCBI36 |
| NG_011835.1:g.27836C>T , LRG_417:g.27836C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.233C>T MANE Select | ENSP00000383365.1:p.Thr78Ile | |
| ENST00000334363.14:c.233C>T | ENSP00000334451.9:p.Thr78Ile | |
| ENST00000400518.5:c.143C>T | ENSP00000383362.1:p.Thr48Ile | |
| ENST00000400519.6:c.230C>T | ENSP00000383363.1:p.Thr77Ile | |
| ENST00000400521.6:c.233C>T | ENSP00000383365.1:p.Thr78Ile | |
| ENST00000400525.6:c.164C>T | ENSP00000383369.3:p.Thr55Ile | |
| ENST00000474308.5:c.176C>T | ENSP00000485665.1:p.Thr59Ile | |
| ENST00000491939.6:c.137C>T | ENSP00000485543.1:p.Thr46Ile | |
| ENST00000496729.2:n.238C>T | ||
| ENST00000542719.6:c.-56C>T | ENSP00000485128.2:n.-56C>T | |
| NM_001282512.1:c.233C>T | NP_001269441.1:p.Thr78Ile | |
| NM_006440.4:c.233C>T | NP_006431.2:p.Thr78Ile | |
| NM_001282512.2:c.233C>T | NP_001269441.1:p.Thr78Ile | |
| NM_001352300.1:c.230C>T | NP_001339229.1:p.Thr77Ile | |
| NM_001352301.1:c.143C>T | NP_001339230.1:p.Thr48Ile | |
| NM_001352302.1:c.-56C>T | NP_001339231.1:n.-56C>T | |
| NM_001352303.1:c.137C>T | NP_001339232.1:p.Thr46Ile | |
| NR_147957.1:n.365C>T | ||
| NM_006440.5:c.233C>T MANE Select | NP_006431.2:p.Thr78Ile | |
| NM_001282512.3:c.233C>T | NP_001269441.1:p.Thr78Ile | |
| NM_001352300.2:c.230C>T | NP_001339229.1:p.Thr77Ile | |
| NR_147957.2:n.191C>T | ||
| NM_001352301.2:c.143C>T | NP_001339230.1:p.Thr48Ile | |
| NM_001352302.2:c.-56C>T | NP_001339231.1:n.-56C>T | |
| NM_001352303.2:c.137C>T | NP_001339232.1:p.Thr46Ile |