Linked Data
ClinVar Variation Id:
422135
dbSNP Id:
rs528880720
ExAC:
10:73326686 A / C
gnomAD v2:
10-73326686-A-C
gnomAD v3:
10-71566929-A-C
gnomAD v4:
10-71566929-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71566929A>C , CM000672.2:g.71566929A>C | GRCh38 |
| NC_000010.10:g.73326686A>C , CM000672.1:g.73326686A>C | GRCh37 |
| NC_000010.9:g.72996692A>C | NCBI36 |
| NG_008835.1:g.174983A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.617A>C MANE Select | ENSP00000224721.9:p.Asn206Thr | |
| ENST00000398809.9:c.617A>C | ENSP00000381789.5:p.Asn206Thr | |
| ENST00000442677.4:c.617A>C | ENSP00000388894.3:p.Asn206Thr | |
| ENST00000643732.1:n.393A>C | ||
| ENST00000646131.1:c.281A>C | ENSP00000495098.1:p.Asn94Thr | |
| ENST00000224721.10:c.632A>C | ENSP00000224721.8:p.Asn211Thr | |
| ENST00000299366.11:c.617A>C | ENSP00000299366.8:p.Asn206Thr | |
| ENST00000398809.8:c.617A>C | ENSP00000381789.5:p.Asn206Thr | |
| ENST00000398842.7:c.440A>C | ENSP00000381822.4:p.Asn147Thr | |
| ENST00000461841.7:c.617A>C | ENSP00000473454.2:p.Asn206Thr | |
| ENST00000616684.4:c.617A>C | ENSP00000482036.2:p.Asn206Thr | |
| ENST00000622827.4:c.617A>C | ENSP00000483211.1:p.Asn206Thr | |
| NM_001171930.1:c.617A>C | NP_001165401.1:p.Asn206Thr | |
| NM_001171931.1:c.617A>C | NP_001165402.1:p.Asn206Thr | |
| NM_001171932.1:c.617A>C | NP_001165403.1:p.Asn206Thr | |
| NM_022124.5:c.617A>C | NP_071407.4:p.Asn206Thr | |
| NM_052836.3:c.617A>C | NP_443068.1:p.Asn206Thr | |
| XM_006717940.2:c.752A>C | XP_006718003.1:p.Asn251Thr | |
| XM_006717942.2:c.752A>C | XP_006718005.1:p.Asn251Thr | |
| XM_011540039.1:c.752A>C | XP_011538341.1:p.Asn251Thr | |
| XM_011540040.1:c.752A>C | XP_011538342.1:p.Asn251Thr | |
| XM_011540041.1:c.752A>C | XP_011538343.1:p.Asn251Thr | |
| XM_011540042.1:c.752A>C | XP_011538344.1:p.Asn251Thr | |
| XM_011540043.1:c.752A>C | XP_011538345.1:p.Asn251Thr | |
| XM_011540044.1:c.617A>C | XP_011538346.1:p.Asn206Thr | |
| XM_011540045.1:c.752A>C | XP_011538347.1:p.Asn251Thr | |
| XM_011540046.1:c.212A>C | XP_011538348.1:p.Asn71Thr | |
| XM_011540048.1:c.752A>C | XP_011538350.1:p.Asn251Thr | |
| XM_011540049.1:c.752A>C | XP_011538351.1:p.Asn251Thr | |
| XM_011540050.1:c.752A>C | XP_011538352.1:p.Asn251Thr | |
| XM_011540051.1:c.752A>C | XP_011538353.1:p.Asn251Thr | |
| XM_011540053.1:c.752A>C | XP_011538355.1:p.Asn251Thr | |
| XM_011540054.1:c.752A>C | XP_011538356.1:p.Asn251Thr | |
| XR_246128.2:n.162-1795T>G | ||
| XR_945796.1:n.995A>C | ||
| NM_001171930.2:c.617A>C | NP_001165401.1:p.Asn206Thr | |
| NM_001171931.2:c.617A>C | NP_001165402.1:p.Asn206Thr | |
| NM_022124.6:c.617A>C MANE Select | NP_071407.4:p.Asn206Thr | |
| NM_052836.4:c.617A>C | NP_443068.1:p.Asn206Thr | |
| NM_001171932.2:c.617A>C | NP_001165403.1:p.Asn206Thr |