Linked Data
ClinVar Variation Id:
194784
dbSNP Id:
rs201024982
ExAC:
10:73439194 C / G
gnomAD v2:
10-73439194-C-G
gnomAD v3:
10-71679437-C-G
gnomAD v4:
10-71679437-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71679437C>G , CM000672.2:g.71679437C>G | GRCh38 |
| NC_000010.10:g.73439194C>G , CM000672.1:g.73439194C>G | GRCh37 |
| NC_000010.9:g.73109200C>G | NCBI36 |
| NG_008835.1:g.287491C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.1803C>G MANE Select | ENSP00000224721.9:p.Val601= | |
| ENST00000398809.9:c.1803C>G | ENSP00000381789.5:p.Val601= | |
| ENST00000442677.4:c.1803C>G | ENSP00000388894.3:p.Val601= | |
| ENST00000466757.8:c.1234C>G | ||
| ENST00000224721.10:c.1818C>G | ENSP00000224721.8:p.Val606= | |
| ENST00000299366.11:c.1803C>G | ENSP00000299366.8:p.Val601= | |
| ENST00000398809.8:c.1803C>G | ENSP00000381789.5:p.Val601= | |
| ENST00000442677.3:c.578C>G | ||
| ENST00000466757.7:c.1234C>G | ||
| ENST00000616684.4:c.1803C>G | ENSP00000482036.2:p.Val601= | |
| ENST00000622827.4:c.1803C>G | ENSP00000483211.1:p.Val601= | |
| NM_001171930.1:c.1803C>G | NP_001165401.1:p.Val601= | |
| NM_001171931.1:c.1803C>G | NP_001165402.1:p.Val601= | |
| NM_022124.5:c.1803C>G | NP_071407.4:p.Val601= | |
| XM_006717940.2:c.1998C>G | XP_006718003.1:p.Val666= | |
| XM_006717942.2:c.1932C>G | XP_006718005.1:p.Val644= | |
| XM_011540039.1:c.1998C>G | XP_011538341.1:p.Val666= | |
| XM_011540040.1:c.1992C>G | XP_011538342.1:p.Val664= | |
| XM_011540041.1:c.1938C>G | XP_011538343.1:p.Val646= | |
| XM_011540042.1:c.1998C>G | XP_011538344.1:p.Val666= | |
| XM_011540043.1:c.1998C>G | XP_011538345.1:p.Val666= | |
| XM_011540044.1:c.1863C>G | XP_011538346.1:p.Val621= | |
| XM_011540045.1:c.1998C>G | XP_011538347.1:p.Val666= | |
| XM_011540046.1:c.1458C>G | XP_011538348.1:p.Val486= | |
| XM_011540047.1:c.816C>G | XP_011538349.1:p.Val272= | |
| XM_011540048.1:c.1998C>G | XP_011538350.1:p.Val666= | |
| XM_011540049.1:c.1998C>G | XP_011538351.1:p.Val666= | |
| XM_011540050.1:c.1998C>G | XP_011538352.1:p.Val666= | |
| XM_011540051.1:c.1998C>G | XP_011538353.1:p.Val666= | |
| XM_011540053.1:c.1998C>G | XP_011538355.1:p.Val666= | |
| XM_011540054.1:c.1938C>G | XP_011538356.1:p.Val646= | |
| XR_945796.1:n.2241C>G | ||
| NM_001171930.2:c.1803C>G | NP_001165401.1:p.Val601= | |
| NM_001171931.2:c.1803C>G | NP_001165402.1:p.Val601= | |
| NM_022124.6:c.1803C>G MANE Select | NP_071407.4:p.Val601= |