Linked Data
ClinVar Variation Id:
126229
dbSNP Id:
rs1861050
ExAC:
4:15482360 C / T
gnomAD v2:
4-15482360-C-T
gnomAD v3:
4-15480736-C-T
gnomAD v4:
4-15480736-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15480736C>T , CM000666.2:g.15480736C>T | GRCh38 |
| NC_000004.11:g.15482360C>T , CM000666.1:g.15482360C>T | GRCh37 |
| NC_000004.10:g.15091458C>T | NCBI36 |
| NG_013035.1:g.15872C>T , LRG_697:g.15872C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389652.11:c.156C>T | ENSP00000374303.8:p.Ser52= | |
| ENST00000424120.6:c.156C>T MANE Select | ENSP00000403465.1:p.Ser52= | |
| ENST00000503292.6:c.156C>T | ENSP00000421809.1:p.Ser52= | |
| ENST00000506643.5:c.9C>T | ENSP00000422931.2:p.Ser3= | |
| ENST00000511544.6:c.*44C>T | ENSP00000426109.2:n.*44C>T | |
| ENST00000512702.6:c.156C>T | ENSP00000422875.2:p.Ser52= | |
| ENST00000514450.3:c.156C>T | ENSP00000502062.1:p.Ser52= | |
| ENST00000515124.6:c.156C>T | ENSP00000424368.1:p.Ser52= | |
| ENST00000634028.2:c.9C>T | ENSP00000488669.2:p.Ser3= | |
| ENST00000650860.2:c.9C>T | ENSP00000498775.1:p.Ser3= | |
| ENST00000651385.1:c.9C>T | ENSP00000499005.1:p.Ser3= | |
| ENST00000652443.1:c.9C>T | ENSP00000502719.1:p.Ser3= | |
| ENST00000674945.1:c.9C>T | ENSP00000502333.1:p.Ser3= | |
| ENST00000676337.1:c.9C>T | ENSP00000501728.1:p.Ser3= | |
| ENST00000424120.5:c.156C>T | ENSP00000403465.1:p.Ser52= | |
| ENST00000438599.6:c.262C>T | ENSP00000401154.2:p.Arg88Ter | |
| ENST00000503292.5:c.156C>T | ENSP00000421809.1:p.Ser52= | |
| ENST00000503658.2:c.262C>T | ENSP00000426846.1:p.Arg88Ter | |
| ENST00000507954.5:c.156C>T | ENSP00000427221.1:p.Ser52= | |
| ENST00000511544.5:c.*44C>T | ENSP00000426109.2:n.*44C>T | |
| ENST00000512702.5:c.156C>T | ENSP00000422875.1:p.Ser52= | |
| ENST00000513811.5:n.336C>T | ||
| ENST00000514450.2:n.311C>T | ||
| ENST00000515124.5:c.156C>T | ENSP00000424368.1:p.Ser52= | |
| ENST00000634028.1:c.139C>T | ENSP00000488669.1:p.Arg47Ter | |
| NM_001080522.2:c.156C>T , LRG_697t1:c.156C>T | NP_001073991.2:p.Ser52= | |
| NM_001164720.1:c.156C>T | NP_001158192.1:p.Ser52= | |
| NM_020785.2:c.262C>T , LRG_697t2:c.262C>T | NP_065836.2:p.Arg88Ter | |
| XM_005248177.1:c.156C>T | XP_005248234.1:p.Ser52= | |
| XM_011513869.1:c.156C>T | XP_011512171.1:p.Ser52= | |
| XM_011513870.1:c.156C>T | XP_011512172.1:p.Ser52= | |
| XM_011513871.1:c.9C>T | XP_011512173.1:p.Ser3= | |
| XM_011513872.1:c.156C>T | XP_011512174.1:p.Ser52= | |
| XM_011513873.1:c.156C>T | XP_011512175.1:p.Ser52= | |
| XM_011513874.1:c.156C>T | XP_011512176.1:p.Ser52= | |
| XM_011513872.3:c.156C>T | XP_011512174.1:p.Ser52= | |
| XM_011513874.2:c.156C>T | XP_011512176.1:p.Ser52= | |
| XM_017008482.1:c.9C>T | XP_016863971.1:p.Ser3= | |
| XR_001741296.1:n.356C>T | ||
| NM_001164720.2:c.156C>T | NP_001158192.1:p.Ser52= | |
| NM_001164720.3:c.156C>T | NP_001158192.1:p.Ser52= | |
| NM_001378615.1:c.156C>T MANE Select | NP_001365544.1:p.Ser52= | |
| NM_001378617.1:c.9C>T | NP_001365546.1:p.Ser3= |