Linked Data
dbSNP Id:
rs781761068
ExAC:
3:4829647 G / A
gnomAD v2:
3-4829647-G-A
gnomAD v4:
3-4787963-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4787963G>A , CM000665.2:g.4787963G>A | GRCh38 |
| NC_000003.11:g.4829647G>A , CM000665.1:g.4829647G>A | GRCh37 |
| NC_000003.10:g.4804647G>A | NCBI36 |
| NG_016144.1:g.299616G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302640.13:c.6643G>A | ENSP00000306253.9:n.6643G>A | |
| ENST00000354582.12:c.6608G>A | ENSP00000346595.8:p.Arg2203Gln | |
| ENST00000443694.5:c.6587G>A | ENSP00000401671.2:p.Arg2196Gln | |
| ENST00000354582.11:c.6608G>A | ENSP00000346595.8:p.Arg2203Gln | |
| ENST00000357086.10:c.6488G>A | ENSP00000349597.4:p.Arg2163Gln | |
| ENST00000443694.4:c.6587G>A | ENSP00000401671.2:p.Arg2196Gln | |
| ENST00000456211.8:c.6443G>A | ENSP00000397885.2:p.Arg2148Gln | |
| ENST00000481415.2:n.524G>A | ||
| ENST00000544951.6:c.997-18140G>A | ENSP00000440564.1:n.997-18140G>A | |
| ENST00000647708.1:c.2531G>A | ||
| ENST00000647717.1:n.4136G>A | ||
| ENST00000648016.1:c.2967G>A | ||
| ENST00000648038.1:c.4394G>A | ENSP00000497872.1:p.Arg1465Gln | |
| ENST00000648212.1:c.3540G>A | ||
| ENST00000648266.1:c.6605G>A | ENSP00000498014.1:p.Arg2202Gln | |
| ENST00000648309.1:c.6560G>A | ENSP00000497026.1:p.Arg2187Gln | |
| ENST00000648390.1:c.447-58176G>A | ||
| ENST00000648431.1:c.3934G>A | ||
| ENST00000648510.1:n.466G>A | ||
| ENST00000649015.2:c.6632G>A MANE Select | ENSP00000497605.1:p.Arg2211Gln | |
| ENST00000649144.1:n.1680G>A | ||
| ENST00000649272.1:n.194G>A | ||
| ENST00000649694.1:n.4117G>A | ||
| ENST00000650294.1:c.6590G>A | ENSP00000498056.1:p.Arg2197Gln | |
| ENST00000302640.12:c.6587G>A | ENSP00000306253.8:p.Arg2196Gln | |
| ENST00000354582.10:c.6632G>A | ENSP00000346595.7:p.Arg2211Gln | |
| ENST00000357086.9:c.6488G>A | ENSP00000349597.4:p.Arg2163Gln | |
| ENST00000443694.3:c.6587G>A | ENSP00000401671.2:p.Arg2196Gln | |
| ENST00000456211.7:c.6443G>A | ENSP00000397885.2:p.Arg2148Gln | |
| ENST00000481415.1:n.524G>A | ||
| ENST00000544951.5:c.997-18140G>A | ENSP00000440564.1:n.997-18140G>A | |
| NM_001099952.2:c.6488G>A | NP_001093422.2:p.Arg2163Gln | |
| NM_001168272.1:c.6587G>A | NP_001161744.1:p.Arg2196Gln | |
| NM_002222.5:c.6443G>A | NP_002213.5:p.Arg2148Gln | |
| XM_005265109.2:c.6563G>A | XP_005265166.1:p.Arg2188Gln | |
| XM_005265110.2:c.6515G>A | XP_005265167.1:p.Arg2172Gln | |
| XM_006713131.2:c.6566G>A | XP_006713194.1:p.Arg2189Gln | |
| XM_011533681.1:c.6635G>A | XP_011531983.1:p.Arg2212Gln | |
| XM_011533682.1:c.6635G>A | XP_011531984.1:p.Arg2212Gln | |
| XM_011533683.1:c.6632G>A | XP_011531985.1:p.Arg2211Gln | |
| XM_011533684.1:c.6608G>A | XP_011531986.1:p.Arg2203Gln | |
| XM_011533685.1:c.6602G>A | XP_011531987.1:p.Arg2201Gln | |
| XM_011533686.1:c.6599G>A | XP_011531988.1:p.Arg2200Gln | |
| XM_011533687.1:c.6590G>A | XP_011531989.1:p.Arg2197Gln | |
| XM_011533688.1:c.6563G>A | XP_011531990.1:p.Arg2188Gln | |
| XM_011533689.1:c.6524G>A | XP_011531991.1:p.Arg2175Gln | |
| XM_011533690.1:c.6635G>A | XP_011531992.1:p.Arg2212Gln | |
| XM_005265109.3:c.6563G>A | XP_005265166.1:p.Arg2188Gln | |
| XM_005265110.3:c.6515G>A | XP_005265167.1:p.Arg2172Gln | |
| XM_006713131.3:c.6566G>A | XP_006713194.1:p.Arg2189Gln | |
| XM_011533682.3:c.6635G>A | XP_011531984.1:p.Arg2212Gln | |
| XM_011533683.3:c.6632G>A | XP_011531985.1:p.Arg2211Gln | |
| XM_011533684.2:c.6608G>A | XP_011531986.1:p.Arg2203Gln | |
| XM_011533685.2:c.6602G>A | XP_011531987.1:p.Arg2201Gln | |
| XM_011533686.2:c.6599G>A | XP_011531988.1:p.Arg2200Gln | |
| XM_011533687.2:c.6590G>A | XP_011531989.1:p.Arg2197Gln | |
| XM_011533688.2:c.6563G>A | XP_011531990.1:p.Arg2188Gln | |
| XM_011533690.2:c.6635G>A | XP_011531992.1:p.Arg2212Gln | |
| XM_017006357.2:c.6632G>A | XP_016861846.1:p.Arg2211Gln | |
| NM_001099952.3:c.6488G>A | NP_001093422.2:p.Arg2163Gln | |
| NM_002222.6:c.6443G>A | NP_002213.5:p.Arg2148Gln | |
| NM_001099952.4:c.6488G>A | NP_001093422.2:p.Arg2163Gln | |
| NM_001168272.2:c.6587G>A | NP_001161744.1:p.Arg2196Gln | |
| NM_001378452.1:c.6632G>A MANE Select | NP_001365381.1:p.Arg2211Gln | |
| NM_002222.7:c.6443G>A | NP_002213.5:p.Arg2148Gln |