Linked Data
ClinVar Variation Id:
1045440
ClinVar RCV Id:
RCV001349848
dbSNP Id:
rs748258958
ExAC:
15:44876572 A / G
gnomAD v2:
15-44876572-A-G
gnomAD v3:
15-44584374-A-G
gnomAD v4:
15-44584374-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584374A>G , CM000677.2:g.44584374A>G | GRCh38 |
| NC_000015.9:g.44876572A>G , CM000677.1:g.44876572A>G | GRCh37 |
| NC_000015.8:g.42663864A>G | NCBI36 |
| NG_008885.1:g.84305T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5306T>C | ENSP00000453246.2:p.Met1769Thr | |
| ENST00000561391.2:n.1534T>C | ||
| ENST00000682065.1:c.5162T>C | ENSP00000507025.1:p.Met1721Thr | |
| ENST00000682460.1:c.*1563T>C | ENSP00000508334.1:n.*1563T>C | |
| ENST00000682495.1:c.*1798T>C | ENSP00000507166.1:n.*1798T>C | |
| ENST00000682669.1:c.5105T>C | ENSP00000507782.1:p.Met1702Thr | |
| ENST00000683186.1:c.*2069T>C | ENSP00000507268.1:n.*2069T>C | |
| ENST00000683496.1:c.5306T>C | ENSP00000506968.1:p.Met1769Thr | |
| ENST00000683734.1:c.5306T>C | ENSP00000508319.1:p.Met1769Thr | |
| ENST00000683753.1:n.4352T>C | ||
| ENST00000684038.1:c.*1726T>C | ENSP00000507141.1:n.*1726T>C | |
| ENST00000684235.1:c.5306T>C | ENSP00000508295.1:p.Met1769Thr | |
| ENST00000684676.1:c.5306T>C | ENSP00000506948.1:p.Met1769Thr | |
| ENST00000261866.12:c.5306T>C MANE Select | ENSP00000261866.7:p.Met1769Thr | |
| ENST00000261866.11:c.5306T>C | ENSP00000261866.7:p.Met1769Thr | |
| ENST00000427534.6:c.5306T>C | ENSP00000396110.2:p.Met1769Thr | |
| ENST00000535302.6:c.5306T>C | ENSP00000445278.2:p.Met1769Thr | |
| ENST00000558319.5:c.5306T>C | ENSP00000453599.1:p.Met1769Thr | |
| ENST00000558790.5:n.743T>C | ||
| ENST00000559511.5:c.154T>C | ||
| ENST00000559822.1:c.78T>C | ||
| NM_001160227.1:c.5306T>C | NP_001153699.1:p.Met1769Thr | |
| NM_025137.3:c.5306T>C | NP_079413.3:p.Met1769Thr | |
| XM_005254695.3:c.5048T>C | XP_005254752.1:p.Met1683Thr | |
| XM_006720700.1:c.5162T>C | XP_006720763.1:p.Met1721Thr | |
| XM_017022634.1:c.5306T>C | XP_016878123.1:p.Met1769Thr | |
| XM_017022636.1:c.2183T>C | XP_016878125.1:p.Met728Thr | |
| XR_931917.2:n.5360T>C | ||
| NM_025137.4:c.5306T>C MANE Select | NP_079413.3:p.Met1769Thr | |
| NM_001160227.2:c.5306T>C | NP_001153699.1:p.Met1769Thr |