Linked Data
ClinVar Variation Id:
377102
dbSNP Id:
rs780511606
ExAC:
20:44664420 C / T
gnomAD v2:
20-44664420-C-T
gnomAD v3:
20-46035781-C-T
gnomAD v4:
20-46035781-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46035781C>T , CM000682.2:g.46035781C>T | GRCh38 |
| NC_000020.10:g.44664420C>T , CM000682.1:g.44664420C>T | GRCh37 |
| NC_000020.9:g.44097827C>T | NCBI36 |
| NG_046341.1:g.19092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.284C>T MANE Select | ENSP00000243964.4:p.Pro95Leu | |
| ENST00000243964.6:c.284C>T | ENSP00000243964.3:p.Pro95Leu | |
| ENST00000372315.4:n.433C>T | ||
| ENST00000454036.6:c.353C>T | ENSP00000387694.1:p.Pro118Leu | |
| ENST00000539566.3:c.284C>T | ENSP00000446091.1:p.Pro95Leu | |
| ENST00000608944.5:c.152C>T | ENSP00000476885.2:p.Pro51Leu | |
| ENST00000616201.4:c.284C>T | ENSP00000484585.1:p.Pro95Leu | |
| ENST00000616202.4:c.284C>T | ENSP00000478369.1:p.Pro95Leu | |
| ENST00000616933.4:c.284C>T | ENSP00000477569.1:p.Pro95Leu | |
| ENST00000622711.4:n.447C>T | ||
| ENST00000625683.2:n.447C>T | ||
| ENST00000626937.2:c.284C>T | ENSP00000485953.1:p.Pro95Leu | |
| ENST00000627290.2:c.*137C>T | ENSP00000487449.1:n.*137C>T | |
| ENST00000629054.2:n.808C>T | ||
| NM_001134771.1:c.353C>T | NP_001128243.1:p.Pro118Leu | |
| NM_020708.4:c.284C>T | NP_065759.1:p.Pro95Leu | |
| XM_017027981.1:c.353C>T | XP_016883470.1:p.Pro118Leu | |
| NM_001134771.2:c.353C>T | NP_001128243.1:p.Pro118Leu | |
| NM_020708.5:c.284C>T MANE Select | NP_065759.1:p.Pro95Leu |