Linked Data
dbSNP Id:
rs772245126
ExAC:
7:154645512 G / T
gnomAD v2:
7-154645512-G-T
gnomAD v4:
7-154853802-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.154853802G>T , CM000669.2:g.154853802G>T | GRCh38 |
| NC_000007.13:g.154645512G>T , CM000669.1:g.154645512G>T | GRCh37 |
| NC_000007.12:g.154276445G>T | NCBI36 |
| NG_033878.1:g.971469G>T | |
| NG_033878.2:g.1110817G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706130.1:c.1506G>T | ENSP00000516215.1:p.Thr502= | |
| ENST00000706151.1:c.714G>T | ENSP00000516234.1:p.Thr238= | |
| ENST00000706153.1:n.1335G>T | ||
| ENST00000706154.1:n.973G>T | ||
| ENST00000706155.1:n.1120G>T | ||
| ENST00000377770.8:c.1689G>T MANE Select | ENSP00000367001.3:p.Thr563= | |
| ENST00000332007.7:c.1503G>T | ENSP00000328226.3:p.Thr501= | |
| ENST00000377770.7:c.1689G>T | ENSP00000367001.3:p.Thr563= | |
| ENST00000404039.5:c.1497G>T | ENSP00000385578.1:p.Thr499= | |
| ENST00000427557.1:c.1368G>T | ENSP00000397303.1:p.Thr456= | |
| ENST00000493268.1:n.254G>T | ||
| NM_001039350.2:c.1497G>T | NP_001034439.1:p.Thr499= | |
| NM_001290252.1:c.1368G>T | NP_001277181.1:p.Thr456= | |
| NM_001936.4:c.1503G>T | NP_001927.3:p.Thr501= | |
| NM_130797.3:c.1689G>T | NP_570629.2:p.Thr563= | |
| XM_011515865.1:c.1497G>T | XP_011514167.1:p.Thr499= | |
| XM_011515866.1:c.1065G>T | XP_011514168.1:p.Thr355= | |
| XR_928190.1:n.154+11508C>A | ||
| NM_001364497.1:c.1506G>T | NP_001351426.1:p.Thr502= | |
| NM_001364498.1:c.1506G>T | NP_001351427.1:p.Thr502= | |
| NM_001364499.1:c.1506G>T | NP_001351428.1:p.Thr502= | |
| NM_001364500.1:c.1506G>T | NP_001351429.1:p.Thr502= | |
| NR_157195.1:n.2139G>T | ||
| NR_157196.1:n.1839G>T | ||
| XM_017011812.2:c.1065G>T | XP_016867301.1:p.Thr355= | |
| XR_928190.2:n.246+11508C>A | ||
| NM_130797.4:c.1689G>T MANE Select | NP_570629.2:p.Thr563= | |
| NM_001039350.3:c.1497G>T | NP_001034439.1:p.Thr499= | |
| NM_001290252.2:c.1368G>T | NP_001277181.1:p.Thr456= | |
| NM_001364497.2:c.1506G>T | NP_001351426.1:p.Thr502= | |
| NM_001364498.2:c.1506G>T | NP_001351427.1:p.Thr502= | |
| NM_001364499.2:c.1506G>T | NP_001351428.1:p.Thr502= | |
| NM_001364500.2:c.1506G>T | NP_001351429.1:p.Thr502= | |
| NM_001936.5:c.1503G>T | NP_001927.3:p.Thr501= | |
| NR_157196.2:n.1839G>T | ||
| NR_157195.2:n.2139G>T |