Linked Data
ClinVar Variation Id:
537524
dbSNP Id:
rs770018276
ExAC:
5:112174024 A / T
gnomAD v2:
5-112174024-A-T
gnomAD v4:
5-112838327-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838327A>T , CM000667.2:g.112838327A>T | GRCh38 |
| NC_000005.9:g.112174024A>T , CM000667.1:g.112174024A>T | GRCh37 |
| NC_000005.8:g.112201923A>T | NCBI36 |
| NG_008481.4:g.150807A>T , LRG_130:g.150807A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2398A>T | ENSP00000484935.2:n.2398A>T | |
| ENST00000504915.3:c.2787A>T | ENSP00000473355.2:p.Glu929Asp | |
| ENST00000505350.2:c.*2739A>T | ENSP00000481752.1:n.*2739A>T | |
| ENST00000507379.6:c.2679A>T | ENSP00000423224.2:p.Glu893Asp | |
| ENST00000509732.6:c.2733A>T | ENSP00000426541.2:p.Glu911Asp | |
| ENST00000512211.7:c.2733A>T | ENSP00000423828.3:p.Glu911Asp | |
| ENST00000257430.9:c.2733A>T MANE Select | ENSP00000257430.4:p.Glu911Asp | |
| ENST00000257430.8:c.2733A>T | ENSP00000257430.4:p.Glu911Asp | |
| ENST00000502371.2:c.1086A>T | ||
| ENST00000507379.5:c.2679A>T | ENSP00000423224.1:p.Glu893Asp | |
| ENST00000508376.6:c.2733A>T | ENSP00000427089.2:p.Glu911Asp | |
| ENST00000508624.5:c.*2055A>T | ENSP00000424265.1:n.*2055A>T | |
| ENST00000512211.6:c.2733A>T | ENSP00000423828.2:p.Glu911Asp | |
| ENST00000520401.1:c.230+9355A>T | ||
| NM_000038.5:c.2733A>T | NP_000029.2:p.Glu911Asp | |
| NM_001127510.2:c.2733A>T | NP_001120982.1:p.Glu911Asp | |
| NM_001127511.2:c.2679A>T | NP_001120983.2:p.Glu893Asp | |
| NM_001354895.1:c.2733A>T | NP_001341824.1:p.Glu911Asp | |
| NM_001354896.1:c.2787A>T | NP_001341825.1:p.Glu929Asp | |
| NM_001354897.1:c.2763A>T | NP_001341826.1:p.Glu921Asp | |
| NM_001354898.1:c.2658A>T | NP_001341827.1:p.Glu886Asp | |
| NM_001354899.1:c.2649A>T | NP_001341828.1:p.Glu883Asp | |
| NM_001354900.1:c.2610A>T | NP_001341829.1:p.Glu870Asp | |
| NM_001354901.1:c.2556A>T | NP_001341830.1:p.Glu852Asp | |
| NM_001354902.1:c.2460A>T | NP_001341831.1:p.Glu820Asp | |
| NM_001354903.1:c.2430A>T | NP_001341832.1:p.Glu810Asp | |
| NM_001354904.1:c.2355A>T | NP_001341833.1:p.Glu785Asp | |
| NM_001354905.1:c.2253A>T | NP_001341834.1:p.Glu751Asp | |
| NM_001354906.1:c.1884A>T | NP_001341835.1:p.Glu628Asp | |
| NM_000038.6:c.2733A>T MANE Select | NP_000029.2:p.Glu911Asp | |
| NM_001127510.3:c.2733A>T | NP_001120982.1:p.Glu911Asp | |
| NM_001127511.3:c.2679A>T | NP_001120983.2:p.Glu893Asp | |
| NM_001354895.2:c.2733A>T | NP_001341824.1:p.Glu911Asp | |
| NM_001354896.2:c.2787A>T | NP_001341825.1:p.Glu929Asp | |
| NM_001354897.2:c.2763A>T | NP_001341826.1:p.Glu921Asp | |
| NM_001354898.2:c.2658A>T | NP_001341827.1:p.Glu886Asp | |
| NM_001354899.2:c.2649A>T | NP_001341828.1:p.Glu883Asp | |
| NM_001354900.2:c.2610A>T | NP_001341829.1:p.Glu870Asp | |
| NM_001354901.2:c.2556A>T | NP_001341830.1:p.Glu852Asp | |
| NM_001354902.2:c.2460A>T | NP_001341831.1:p.Glu820Asp | |
| NM_001354903.2:c.2430A>T | NP_001341832.1:p.Glu810Asp | |
| NM_001354904.2:c.2355A>T | NP_001341833.1:p.Glu785Asp | |
| NM_001354905.2:c.2253A>T | NP_001341834.1:p.Glu751Asp | |
| NM_001354906.2:c.1884A>T | NP_001341835.1:p.Glu628Asp |