Linked Data
ClinVar Variation Id:
44593
dbSNP Id:
rs397516794
gnomAD v3:
15-66485171-C-G
gnomAD v4:
15-66485171-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485171C>G , CM000677.2:g.66485171C>G | GRCh38 |
| NC_000015.9:g.66777509C>G , CM000677.1:g.66777509C>G | GRCh37 |
| NC_000015.8:g.64564563C>G | NCBI36 |
| NG_008305.1:g.103299C>G , LRG_725:g.103299C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.628-2057C>G | ENSP00000508681.1:n.628-2057C>G | |
| ENST00000685172.1:c.875C>G | ENSP00000509604.1:p.Thr292Ser | |
| ENST00000685763.1:c.728C>G | ENSP00000509016.1:p.Thr243Ser | |
| ENST00000686347.1:c.569-2057C>G | ENSP00000509027.1:n.569-2057C>G | |
| ENST00000687191.1:n.1233C>G | ||
| ENST00000687481.1:n.290C>G | ||
| ENST00000689951.1:c.926C>G | ENSP00000509308.1:p.Thr309Ser | |
| ENST00000691077.1:c.*112C>G | ENSP00000509843.1:n.*112C>G | |
| ENST00000691576.1:c.746C>G | ENSP00000510066.1:p.Thr249Ser | |
| ENST00000691937.1:c.875C>G | ENSP00000508768.1:p.Thr292Ser | |
| ENST00000692487.1:c.*112C>G | ENSP00000509534.1:n.*112C>G | |
| ENST00000692683.1:c.809C>G | ENSP00000508437.1:p.Thr270Ser | |
| ENST00000693150.1:c.731C>G | ENSP00000510309.1:p.Thr244Ser | |
| ENST00000307102.10:c.875C>G MANE Select | ENSP00000302486.5:p.Thr292Ser | |
| ENST00000307102.9:c.875C>G | ENSP00000302486.4:p.Thr292Ser | |
| ENST00000566326.1:c.347C>G | ENSP00000456438.1:p.Thr116Ser | |
| NM_002755.3:c.875C>G , LRG_725t1:c.875C>G | NP_002746.1:p.Thr292Ser | |
| XM_011521783.1:c.809C>G | XP_011520085.1:p.Thr270Ser | |
| XM_011521783.3:c.809C>G | XP_011520085.1:p.Thr270Ser | |
| XM_017022411.2:c.797C>G | XP_016877900.1:p.Thr266Ser | |
| XM_017022412.1:c.731C>G | XP_016877901.1:p.Thr244Ser | |
| XM_017022413.1:c.347C>G | XP_016877902.1:p.Thr116Ser | |
| NM_002755.4:c.875C>G MANE Select | NP_002746.1:p.Thr292Ser |