Linked Data
ClinVar Variation Id:
990734
ClinVar RCV Id:
RCV001278818
dbSNP Id:
rs776977023
ExAC:
1:120269720 A / T
gnomAD v2:
1-120269720-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119727097A>T , CM000663.2:g.119727097A>T | GRCh38 |
| NC_000001.10:g.120269720A>T , CM000663.1:g.120269720A>T | GRCh37 |
| NC_000001.9:g.120071243A>T | NCBI36 |
| NG_009188.1:g.20302A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.505A>T | ENSP00000358417.5:p.Met169Leu | |
| ENST00000462324.2:n.588A>T | ||
| ENST00000641023.2:c.505A>T MANE Select | ENSP00000493175.1:p.Met169Leu | |
| ENST00000641074.1:c.505A>T | ENSP00000493446.1:p.Met169Leu | |
| ENST00000641115.1:c.505A>T | ENSP00000493264.1:p.Met169Leu | |
| ENST00000641213.1:c.*158A>T | ENSP00000493079.1:n.*158A>T | |
| ENST00000641247.1:c.*224A>T | ENSP00000492955.1:n.*224A>T | |
| ENST00000641272.1:c.439A>T | ENSP00000493432.1:p.Met147Leu | |
| ENST00000641314.1:n.490A>T | ||
| ENST00000641371.1:c.419A>T | ENSP00000493305.1:p.Asp140Val | |
| ENST00000641375.1:c.*341A>T | ENSP00000493089.1:n.*341A>T | |
| ENST00000641455.1:n.50A>T | ||
| ENST00000641491.1:c.*158A>T | ENSP00000493187.1:n.*158A>T | |
| ENST00000641570.1:c.*224A>T | ENSP00000493213.1:n.*224A>T | |
| ENST00000641573.1:n.593A>T | ||
| ENST00000641587.1:c.*216A>T | ENSP00000493453.1:n.*216A>T | |
| ENST00000641597.1:c.505A>T | ENSP00000493382.1:p.Met169Leu | |
| ENST00000641756.1:c.*249A>T | ENSP00000493147.1:n.*249A>T | |
| ENST00000641811.1:c.261A>T | ||
| ENST00000641847.1:n.364A>T | ||
| ENST00000641891.1:c.*331A>T | ENSP00000493288.1:n.*331A>T | |
| ENST00000641927.1:n.445A>T | ||
| ENST00000641947.1:c.505A>T | ENSP00000492994.1:p.Met169Leu | |
| ENST00000642021.1:n.627A>T | ||
| ENST00000369407.3:c.403A>T | ENSP00000358415.3:p.Met135Leu | |
| ENST00000369409.8:c.505A>T | ENSP00000358417.4:p.Met169Leu | |
| ENST00000462324.1:n.773A>T | ||
| ENST00000493622.5:n.694A>T | ||
| NM_006623.3:c.505A>T | NP_006614.2:p.Met169Leu | |
| XM_011541226.1:c.727A>T | XP_011539528.1:p.Met243Leu | |
| XM_011541227.1:c.649A>T | XP_011539529.1:p.Met217Leu | |
| XM_011541228.1:c.616A>T | XP_011539530.1:p.Met206Leu | |
| XM_011541229.1:c.442A>T | XP_011539531.1:p.Met148Leu | |
| XM_011541230.1:c.220A>T | XP_011539532.1:p.Met74Leu | |
| XM_011541231.1:c.211A>T | XP_011539533.1:p.Met71Leu | |
| XM_011541226.2:c.727A>T | XP_011539528.1:p.Met243Leu | |
| XM_011541227.2:c.649A>T | XP_011539529.1:p.Met217Leu | |
| XM_011541228.2:c.616A>T | XP_011539530.1:p.Met206Leu | |
| XM_011541231.2:c.211A>T | XP_011539533.1:p.Met71Leu | |
| XM_024446338.1:c.616A>T | XP_024302106.1:p.Met206Leu | |
| NM_006623.4:c.505A>T MANE Select | NP_006614.2:p.Met169Leu |