Linked Data
ClinVar Variation Id:
748982
ClinVar RCV Id:
RCV000925812
dbSNP Id:
rs114359276
ExAC:
3:4829741 C / T
gnomAD v2:
3-4829741-C-T
gnomAD v3:
3-4788057-C-T
gnomAD v4:
3-4788057-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4788057C>T , CM000665.2:g.4788057C>T | GRCh38 |
| NC_000003.11:g.4829741C>T , CM000665.1:g.4829741C>T | GRCh37 |
| NC_000003.10:g.4804741C>T | NCBI36 |
| NG_016144.1:g.299710C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302640.13:c.6737C>T | ENSP00000306253.9:n.6737C>T | |
| ENST00000354582.12:c.6702C>T | ENSP00000346595.8:p.Asp2234= | |
| ENST00000443694.5:c.6681C>T | ENSP00000401671.2:p.Asp2227= | |
| ENST00000354582.11:c.6702C>T | ENSP00000346595.8:p.Asp2234= | |
| ENST00000357086.10:c.6582C>T | ENSP00000349597.4:p.Asp2194= | |
| ENST00000443694.4:c.6681C>T | ENSP00000401671.2:p.Asp2227= | |
| ENST00000456211.8:c.6537C>T | ENSP00000397885.2:p.Asp2179= | |
| ENST00000481415.2:n.618C>T | ||
| ENST00000544951.6:c.997-18046C>T | ENSP00000440564.1:n.997-18046C>T | |
| ENST00000647708.1:c.2625C>T | ||
| ENST00000647717.1:n.4230C>T | ||
| ENST00000648016.1:c.3061C>T | ||
| ENST00000648038.1:c.4488C>T | ENSP00000497872.1:p.Asp1496= | |
| ENST00000648212.1:c.3634C>T | ||
| ENST00000648266.1:c.6699C>T | ENSP00000498014.1:p.Asp2233= | |
| ENST00000648309.1:c.6654C>T | ENSP00000497026.1:p.Asp2218= | |
| ENST00000648390.1:c.447-58082C>T | ||
| ENST00000648431.1:c.4028C>T | ||
| ENST00000648510.1:n.560C>T | ||
| ENST00000649015.2:c.6726C>T MANE Select | ENSP00000497605.1:p.Asp2242= | |
| ENST00000649144.1:n.1774C>T | ||
| ENST00000649272.1:n.288C>T | ||
| ENST00000649694.1:n.4211C>T | ||
| ENST00000650294.1:c.6684C>T | ENSP00000498056.1:p.Asp2228= | |
| ENST00000302640.12:c.6681C>T | ENSP00000306253.8:p.Asp2227= | |
| ENST00000354582.10:c.6726C>T | ENSP00000346595.7:p.Asp2242= | |
| ENST00000357086.9:c.6582C>T | ENSP00000349597.4:p.Asp2194= | |
| ENST00000443694.3:c.6681C>T | ENSP00000401671.2:p.Asp2227= | |
| ENST00000456211.7:c.6537C>T | ENSP00000397885.2:p.Asp2179= | |
| ENST00000544951.5:c.997-18046C>T | ENSP00000440564.1:n.997-18046C>T | |
| NM_001099952.2:c.6582C>T | NP_001093422.2:p.Asp2194= | |
| NM_001168272.1:c.6681C>T | NP_001161744.1:p.Asp2227= | |
| NM_002222.5:c.6537C>T | NP_002213.5:p.Asp2179= | |
| XM_005265109.2:c.6657C>T | XP_005265166.1:p.Asp2219= | |
| XM_005265110.2:c.6609C>T | XP_005265167.1:p.Asp2203= | |
| XM_006713131.2:c.6660C>T | XP_006713194.1:p.Asp2220= | |
| XM_011533681.1:c.6729C>T | XP_011531983.1:p.Asp2243= | |
| XM_011533682.1:c.6729C>T | XP_011531984.1:p.Asp2243= | |
| XM_011533683.1:c.6726C>T | XP_011531985.1:p.Asp2242= | |
| XM_011533684.1:c.6702C>T | XP_011531986.1:p.Asp2234= | |
| XM_011533685.1:c.6696C>T | XP_011531987.1:p.Asp2232= | |
| XM_011533686.1:c.6693C>T | XP_011531988.1:p.Asp2231= | |
| XM_011533687.1:c.6684C>T | XP_011531989.1:p.Asp2228= | |
| XM_011533688.1:c.6657C>T | XP_011531990.1:p.Asp2219= | |
| XM_011533689.1:c.6618C>T | XP_011531991.1:p.Asp2206= | |
| XM_011533690.1:c.6729C>T | XP_011531992.1:p.Asp2243= | |
| XM_005265109.3:c.6657C>T | XP_005265166.1:p.Asp2219= | |
| XM_005265110.3:c.6609C>T | XP_005265167.1:p.Asp2203= | |
| XM_006713131.3:c.6660C>T | XP_006713194.1:p.Asp2220= | |
| XM_011533682.3:c.6729C>T | XP_011531984.1:p.Asp2243= | |
| XM_011533683.3:c.6726C>T | XP_011531985.1:p.Asp2242= | |
| XM_011533684.2:c.6702C>T | XP_011531986.1:p.Asp2234= | |
| XM_011533685.2:c.6696C>T | XP_011531987.1:p.Asp2232= | |
| XM_011533686.2:c.6693C>T | XP_011531988.1:p.Asp2231= | |
| XM_011533687.2:c.6684C>T | XP_011531989.1:p.Asp2228= | |
| XM_011533688.2:c.6657C>T | XP_011531990.1:p.Asp2219= | |
| XM_011533690.2:c.6729C>T | XP_011531992.1:p.Asp2243= | |
| XM_017006357.2:c.6726C>T | XP_016861846.1:p.Asp2242= | |
| NM_001099952.3:c.6582C>T | NP_001093422.2:p.Asp2194= | |
| NM_002222.6:c.6537C>T | NP_002213.5:p.Asp2179= | |
| NM_001099952.4:c.6582C>T | NP_001093422.2:p.Asp2194= | |
| NM_001168272.2:c.6681C>T | NP_001161744.1:p.Asp2227= | |
| NM_001378452.1:c.6726C>T MANE Select | NP_001365381.1:p.Asp2242= | |
| NM_002222.7:c.6537C>T | NP_002213.5:p.Asp2179= |