Linked Data
dbSNP Id:
rs17646069
ExAC:
13:42803263 T / C
gnomAD v2:
13-42803263-T-C
gnomAD v3:
13-42229127-T-C
gnomAD v4:
13-42229127-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42229127T>C , CM000675.2:g.42229127T>C | GRCh38 |
| NC_000013.10:g.42803263T>C , CM000675.1:g.42803263T>C | GRCh37 |
| NC_000013.9:g.41701263T>C | NCBI36 |
| NG_029191.2:g.194092T>C | |
| NG_029191.3:g.194092T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337343.9:c.3602T>C MANE Select | ENSP00000337572.4:p.Val1201Ala | |
| ENST00000261491.9:c.3471T>C | ENSP00000261491.4:p.Cys1157= | |
| ENST00000337343.8:c.3602T>C | ENSP00000337572.4:p.Val1201Ala | |
| ENST00000379274.6:c.3471T>C | ENSP00000368576.3:p.Cys1157= | |
| ENST00000498255.6:n.3897T>C | ||
| ENST00000536612.3:c.3242T>C | ENSP00000445114.2:p.Val1081Ala | |
| ENST00000626247.2:c.*2560T>C | ENSP00000486329.1:n.*2560T>C | |
| ENST00000627777.2:c.*209T>C | ENSP00000486838.1:n.*209T>C | |
| ENST00000628433.2:c.3194T>C | ENSP00000485809.1:p.Val1065Ala | |
| NM_001204504.2:c.3471T>C | NP_001191433.1:p.Cys1157= | |
| NM_001204505.2:c.3242T>C | NP_001191434.1:p.Val1081Ala | |
| NM_001204506.2:c.3194T>C | NP_001191435.1:p.Val1065Ala | |
| NM_001297429.1:c.2736T>C | NP_001284358.1:p.Cys912= | |
| NM_152910.5:c.3471T>C | NP_690874.2:p.Cys1157= | |
| NM_178009.4:c.3602T>C | NP_821077.1:p.Val1201Ala | |
| NR_123714.1:n.3428T>C | ||
| NR_123715.1:n.4003T>C | ||
| NM_001204505.3:c.3242T>C | NP_001191434.1:p.Val1081Ala | |
| NM_001204506.3:c.3194T>C | NP_001191435.1:p.Val1065Ala | |
| NM_001297429.2:c.2736T>C | NP_001284358.1:p.Cys912= | |
| NM_152910.6:c.3471T>C | NP_690874.2:p.Cys1157= | |
| NM_178009.5:c.3602T>C MANE Select | NP_821077.1:p.Val1201Ala | |
| NR_123714.2:n.3412T>C | ||
| NR_123715.2:n.3987T>C | ||
| NM_001204504.3:c.3471T>C | NP_001191433.1:p.Cys1157= |