Linked Data
ClinVar Variation Id:
2913150
ClinVar RCV Id:
RCV003598726
dbSNP Id:
rs1211131870
gnomAD v2:
2-172291673-C-T
gnomAD v4:
2-171435163-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171435163C>T , CM000664.2:g.171435163C>T | GRCh38 |
| NC_000002.11:g.172291673C>T , CM000664.1:g.172291673C>T | GRCh37 |
| NC_000002.10:g.171999919C>T | NCBI36 |
| NG_013038.1:g.5913C>T | |
| NG_013038.2:g.5913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375255.8:c.207C>T MANE Select | ENSP00000364404.3:p.Asp69= | |
| ENST00000375255.7:c.207C>T | ENSP00000364404.3:p.Asp69= | |
| ENST00000436317.1:c.121C>T | ||
| ENST00000468592.5:n.135C>T | ||
| ENST00000490217.5:n.377C>T | ||
| ENST00000495925.5:n.47+460C>T | ||
| ENST00000539783.5:c.207C>T | ENSP00000442238.1:p.Asp69= | |
| NM_001164821.1:c.207C>T | NP_001158293.1:p.Asp69= | |
| NM_025000.3:c.207C>T | NP_079276.2:p.Asp69= | |
| NR_028482.1:n.534C>T | ||
| XM_006712766.2:c.207C>T | XP_006712829.1:p.Asp69= | |
| XM_006712767.1:c.-55C>T | XP_006712830.1:n.-55C>T | |
| XM_006712768.1:c.-55C>T | XP_006712831.1:n.-55C>T | |
| XM_006712772.2:c.207C>T | XP_006712835.1:p.Asp69= | |
| XM_011511881.1:c.207C>T | XP_011510183.1:p.Asp69= | |
| XM_011511882.1:c.207C>T | XP_011510184.1:p.Asp69= | |
| XM_011511883.1:c.207C>T | XP_011510185.1:p.Asp69= | |
| XM_011511884.1:c.207C>T | XP_011510186.1:p.Asp69= | |
| XM_011511885.1:c.207C>T | XP_011510187.1:p.Asp69= | |
| XR_427113.2:n.529C>T | ||
| XR_923029.1:n.529C>T | ||
| XR_923030.1:n.529C>T | ||
| XM_017004995.1:c.207C>T | XP_016860484.1:p.Asp69= | |
| XM_017004996.1:c.207C>T | XP_016860485.1:p.Asp69= | |
| XM_017004997.1:c.207C>T | XP_016860486.1:p.Asp69= | |
| XM_017004998.1:c.-824C>T | XP_016860487.1:n.-824C>T | |
| XM_017004999.1:c.207C>T | XP_016860488.1:p.Asp69= | |
| XM_017005000.1:c.207C>T | XP_016860489.1:p.Asp69= | |
| XM_017005001.2:c.207C>T | XP_016860490.1:p.Asp69= | |
| XM_017005002.1:c.-590C>T | XP_016860491.1:n.-590C>T | |
| XR_001738961.1:n.529C>T | ||
| NM_025000.4:c.207C>T MANE Select | NP_079276.2:p.Asp69= | |
| NR_028482.2:n.559C>T | ||
| NM_001164821.2:c.207C>T | NP_001158293.1:p.Asp69= |