Linked Data
ClinVar Variation Id:
1956042
ClinVar RCV Id:
RCV002700538
dbSNP Id:
rs1294100489
gnomAD v2:
15-44876742-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584544C>T , CM000677.2:g.44584544C>T | GRCh38 |
| NC_000015.9:g.44876742C>T , CM000677.1:g.44876742C>T | GRCh37 |
| NC_000015.8:g.42664034C>T | NCBI36 |
| NG_008885.1:g.84135G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5136G>A | ENSP00000453246.2:p.Met1712Ile | |
| ENST00000561391.2:n.1364G>A | ||
| ENST00000682065.1:c.5122-130G>A | ENSP00000507025.1:n.5122-130G>A | |
| ENST00000682460.1:c.*1393G>A | ENSP00000508334.1:n.*1393G>A | |
| ENST00000682495.1:c.*1628G>A | ENSP00000507166.1:n.*1628G>A | |
| ENST00000682669.1:c.4935G>A | ENSP00000507782.1:p.Met1645Ile | |
| ENST00000683186.1:c.*1899G>A | ENSP00000507268.1:n.*1899G>A | |
| ENST00000683496.1:c.5136G>A | ENSP00000506968.1:p.Met1712Ile | |
| ENST00000683734.1:c.5136G>A | ENSP00000508319.1:p.Met1712Ile | |
| ENST00000683753.1:n.4182G>A | ||
| ENST00000684038.1:c.*1556G>A | ENSP00000507141.1:n.*1556G>A | |
| ENST00000684235.1:c.5136G>A | ENSP00000508295.1:p.Met1712Ile | |
| ENST00000684676.1:c.5136G>A | ENSP00000506948.1:p.Met1712Ile | |
| ENST00000261866.12:c.5136G>A MANE Select | ENSP00000261866.7:p.Met1712Ile | |
| ENST00000261866.11:c.5136G>A | ENSP00000261866.7:p.Met1712Ile | |
| ENST00000427534.6:c.5136G>A | ENSP00000396110.2:p.Met1712Ile | |
| ENST00000535302.6:c.5136G>A | ENSP00000445278.2:p.Met1712Ile | |
| ENST00000558319.5:c.5136G>A | ENSP00000453599.1:p.Met1712Ile | |
| ENST00000558790.5:n.573G>A | ||
| NM_001160227.1:c.5136G>A | NP_001153699.1:p.Met1712Ile | |
| NM_025137.3:c.5136G>A | NP_079413.3:p.Met1712Ile | |
| XM_005254695.3:c.4878G>A | XP_005254752.1:p.Met1626Ile | |
| XM_006720700.1:c.5122-130G>A | XP_006720763.1:n.5122-130G>A | |
| XM_017022634.1:c.5136G>A | XP_016878123.1:p.Met1712Ile | |
| XM_017022636.1:c.2013G>A | XP_016878125.1:p.Met671Ile | |
| XR_931917.2:n.5190G>A | ||
| NM_025137.4:c.5136G>A MANE Select | NP_079413.3:p.Met1712Ile | |
| NM_001160227.2:c.5136G>A | NP_001153699.1:p.Met1712Ile |