Linked Data
ClinVar Variation Id:
182926
dbSNP Id:
rs730881997
ExAC:
17:7579317 A / T
gnomAD v2:
17-7579317-A-T
gnomAD v3:
17-7675999-A-T
gnomAD v4:
17-7675999-A-T
ERepo:
CA000138/MONDO:0007903/009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7675999A>T , CM000679.2:g.7675999A>T | GRCh38 |
| NC_000017.10:g.7579317A>T , CM000679.1:g.7579317A>T | GRCh37 |
| NC_000017.9:g.7520042A>T | NCBI36 |
| NG_017013.2:g.16552T>A , LRG_321:g.16552T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503591.2:c.370T>A | ENSP00000426252.2:p.Cys124Ser | |
| ENST00000508793.6:c.370T>A | ENSP00000424104.2:p.Cys124Ser | |
| ENST00000509690.6:c.-21-763T>A | ENSP00000425104.2:n.-21-763T>A | |
| ENST00000514944.6:c.96+383T>A | ENSP00000423862.2:n.96+383T>A | |
| ENST00000604348.6:c.370T>A | ENSP00000473895.2:p.Cys124Ser | |
| ENST00000269305.9:c.370T>A MANE Select | ENSP00000269305.4:p.Cys124Ser | |
| ENST00000269305.8:c.370T>A | ENSP00000269305.4:p.Cys124Ser | |
| ENST00000359597.8:c.370T>A | ENSP00000352610.4:p.Cys124Ser | |
| ENST00000413465.6:c.370T>A | ENSP00000410739.2:p.Cys124Ser | |
| ENST00000420246.6:c.370T>A | ENSP00000391127.2:p.Cys124Ser | |
| ENST00000445888.6:c.370T>A | ENSP00000391478.2:p.Cys124Ser | |
| ENST00000455263.6:c.370T>A | ENSP00000398846.2:p.Cys124Ser | |
| ENST00000503591.1:c.370T>A | ENSP00000426252.1:p.Cys124Ser | |
| ENST00000505014.5:n.626T>A | ||
| ENST00000508793.5:c.370T>A | ENSP00000424104.1:p.Cys124Ser | |
| ENST00000509690.5:c.-21-763T>A | ENSP00000425104.1:n.-21-763T>A | |
| ENST00000514944.5:c.96+383T>A | ENSP00000423862.1:n.96+383T>A | |
| ENST00000604348.5:c.370T>A | ENSP00000473895.1:p.Cys124Ser | |
| ENST00000610292.4:c.253T>A | ENSP00000478219.1:p.Cys85Ser | |
| ENST00000610538.4:c.253T>A | ENSP00000480868.1:p.Cys85Ser | |
| ENST00000615910.4:c.340+26T>A | ENSP00000482903.1:n.340+26T>A | |
| ENST00000617185.4:c.370T>A | ENSP00000482258.1:p.Cys124Ser | |
| ENST00000619485.4:c.253T>A | ENSP00000482537.1:p.Cys85Ser | |
| ENST00000620739.4:c.253T>A | ENSP00000481638.1:p.Cys85Ser | |
| ENST00000622645.4:c.253T>A | ENSP00000482222.1:p.Cys85Ser | |
| ENST00000635293.1:c.253T>A | ENSP00000488924.1:p.Cys85Ser | |
| NM_000546.5:c.370T>A , LRG_321t1:c.370T>A | NP_000537.3:p.Cys124Ser | |
| NM_001126112.2:c.370T>A , LRG_321t2:c.370T>A | NP_001119584.1:p.Cys124Ser | |
| NM_001126113.2:c.370T>A , LRG_321t4:c.370T>A | NP_001119585.1:p.Cys124Ser | |
| NM_001126114.2:c.370T>A , LRG_321t3:c.370T>A | NP_001119586.1:p.Cys124Ser | |
| NM_001126118.1:c.253T>A , LRG_321t8:c.253T>A | NP_001119590.1:p.Cys85Ser | |
| NM_001276695.1:c.253T>A | NP_001263624.1:p.Cys85Ser | |
| NM_001276696.1:c.253T>A | NP_001263625.1:p.Cys85Ser | |
| NM_001276760.1:c.253T>A | NP_001263689.1:p.Cys85Ser | |
| NM_001276761.1:c.253T>A | NP_001263690.1:p.Cys85Ser | |
| NM_001276695.2:c.253T>A | NP_001263624.1:p.Cys85Ser | |
| NM_001276696.2:c.253T>A | NP_001263625.1:p.Cys85Ser | |
| NM_001276760.2:c.253T>A | NP_001263689.1:p.Cys85Ser | |
| NM_001276761.2:c.253T>A | NP_001263690.1:p.Cys85Ser | |
| NM_000546.6:c.370T>A MANE Select | NP_000537.3:p.Cys124Ser | |
| NM_001126112.3:c.370T>A | NP_001119584.1:p.Cys124Ser | |
| NM_001126113.3:c.370T>A | NP_001119585.1:p.Cys124Ser | |
| NM_001126114.3:c.370T>A | NP_001119586.1:p.Cys124Ser | |
| NM_001126118.2:c.253T>A | NP_001119590.1:p.Cys85Ser | |
| NM_001276695.3:c.253T>A | NP_001263624.1:p.Cys85Ser | |
| NM_001276696.3:c.253T>A | NP_001263625.1:p.Cys85Ser | |
| NM_001276760.3:c.253T>A | NP_001263689.1:p.Cys85Ser | |
| NM_001276761.3:c.253T>A | NP_001263690.1:p.Cys85Ser |