Linked Data
dbSNP Id:
rs1468316953
gnomAD v2:
3-4829646-C-T
gnomAD v3:
3-4787962-C-T
gnomAD v4:
3-4787962-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4787962C>T , CM000665.2:g.4787962C>T | GRCh38 |
| NC_000003.11:g.4829646C>T , CM000665.1:g.4829646C>T | GRCh37 |
| NC_000003.10:g.4804646C>T | NCBI36 |
| NG_016144.1:g.299615C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302640.13:c.6642C>T | ENSP00000306253.9:n.6642C>T | |
| ENST00000354582.12:c.6607C>T | ENSP00000346595.8:p.Arg2203Ter | |
| ENST00000443694.5:c.6586C>T | ENSP00000401671.2:p.Arg2196Ter | |
| ENST00000354582.11:c.6607C>T | ENSP00000346595.8:p.Arg2203Ter | |
| ENST00000357086.10:c.6487C>T | ENSP00000349597.4:p.Arg2163Ter | |
| ENST00000443694.4:c.6586C>T | ENSP00000401671.2:p.Arg2196Ter | |
| ENST00000456211.8:c.6442C>T | ENSP00000397885.2:p.Arg2148Ter | |
| ENST00000481415.2:n.523C>T | ||
| ENST00000544951.6:c.997-18141C>T | ENSP00000440564.1:n.997-18141C>T | |
| ENST00000647708.1:c.2530C>T | ||
| ENST00000647717.1:n.4135C>T | ||
| ENST00000648016.1:c.2966C>T | ||
| ENST00000648038.1:c.4393C>T | ENSP00000497872.1:p.Arg1465Ter | |
| ENST00000648212.1:c.3539C>T | ||
| ENST00000648266.1:c.6604C>T | ENSP00000498014.1:p.Arg2202Ter | |
| ENST00000648309.1:c.6559C>T | ENSP00000497026.1:p.Arg2187Ter | |
| ENST00000648390.1:c.447-58177C>T | ||
| ENST00000648431.1:c.3933C>T | ||
| ENST00000648510.1:n.465C>T | ||
| ENST00000649015.2:c.6631C>T MANE Select | ENSP00000497605.1:p.Arg2211Ter | |
| ENST00000649144.1:n.1679C>T | ||
| ENST00000649272.1:n.193C>T | ||
| ENST00000649694.1:n.4116C>T | ||
| ENST00000650294.1:c.6589C>T | ENSP00000498056.1:p.Arg2197Ter | |
| ENST00000302640.12:c.6586C>T | ENSP00000306253.8:p.Arg2196Ter | |
| ENST00000354582.10:c.6631C>T | ENSP00000346595.7:p.Arg2211Ter | |
| ENST00000357086.9:c.6487C>T | ENSP00000349597.4:p.Arg2163Ter | |
| ENST00000443694.3:c.6586C>T | ENSP00000401671.2:p.Arg2196Ter | |
| ENST00000456211.7:c.6442C>T | ENSP00000397885.2:p.Arg2148Ter | |
| ENST00000481415.1:n.523C>T | ||
| ENST00000544951.5:c.997-18141C>T | ENSP00000440564.1:n.997-18141C>T | |
| NM_001099952.2:c.6487C>T | NP_001093422.2:p.Arg2163Ter | |
| NM_001168272.1:c.6586C>T | NP_001161744.1:p.Arg2196Ter | |
| NM_002222.5:c.6442C>T | NP_002213.5:p.Arg2148Ter | |
| XM_005265109.2:c.6562C>T | XP_005265166.1:p.Arg2188Ter | |
| XM_005265110.2:c.6514C>T | XP_005265167.1:p.Arg2172Ter | |
| XM_006713131.2:c.6565C>T | XP_006713194.1:p.Arg2189Ter | |
| XM_011533681.1:c.6634C>T | XP_011531983.1:p.Arg2212Ter | |
| XM_011533682.1:c.6634C>T | XP_011531984.1:p.Arg2212Ter | |
| XM_011533683.1:c.6631C>T | XP_011531985.1:p.Arg2211Ter | |
| XM_011533684.1:c.6607C>T | XP_011531986.1:p.Arg2203Ter | |
| XM_011533685.1:c.6601C>T | XP_011531987.1:p.Arg2201Ter | |
| XM_011533686.1:c.6598C>T | XP_011531988.1:p.Arg2200Ter | |
| XM_011533687.1:c.6589C>T | XP_011531989.1:p.Arg2197Ter | |
| XM_011533688.1:c.6562C>T | XP_011531990.1:p.Arg2188Ter | |
| XM_011533689.1:c.6523C>T | XP_011531991.1:p.Arg2175Ter | |
| XM_011533690.1:c.6634C>T | XP_011531992.1:p.Arg2212Ter | |
| XM_005265109.3:c.6562C>T | XP_005265166.1:p.Arg2188Ter | |
| XM_005265110.3:c.6514C>T | XP_005265167.1:p.Arg2172Ter | |
| XM_006713131.3:c.6565C>T | XP_006713194.1:p.Arg2189Ter | |
| XM_011533682.3:c.6634C>T | XP_011531984.1:p.Arg2212Ter | |
| XM_011533683.3:c.6631C>T | XP_011531985.1:p.Arg2211Ter | |
| XM_011533684.2:c.6607C>T | XP_011531986.1:p.Arg2203Ter | |
| XM_011533685.2:c.6601C>T | XP_011531987.1:p.Arg2201Ter | |
| XM_011533686.2:c.6598C>T | XP_011531988.1:p.Arg2200Ter | |
| XM_011533687.2:c.6589C>T | XP_011531989.1:p.Arg2197Ter | |
| XM_011533688.2:c.6562C>T | XP_011531990.1:p.Arg2188Ter | |
| XM_011533690.2:c.6634C>T | XP_011531992.1:p.Arg2212Ter | |
| XM_017006357.2:c.6631C>T | XP_016861846.1:p.Arg2211Ter | |
| NM_001099952.3:c.6487C>T | NP_001093422.2:p.Arg2163Ter | |
| NM_002222.6:c.6442C>T | NP_002213.5:p.Arg2148Ter | |
| NM_001099952.4:c.6487C>T | NP_001093422.2:p.Arg2163Ter | |
| NM_001168272.2:c.6586C>T | NP_001161744.1:p.Arg2196Ter | |
| NM_001378452.1:c.6631C>T MANE Select | NP_001365381.1:p.Arg2211Ter | |
| NM_002222.7:c.6442C>T | NP_002213.5:p.Arg2148Ter |