Linked Data
ClinVar Variation Id:
294393
ClinVar RCV Id:
RCV000875050
dbSNP Id:
rs147154947
ExAC:
1:19216527 A / C
gnomAD v2:
1-19216527-A-C
gnomAD v3:
1-18890033-A-C
gnomAD v4:
1-18890033-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18890033A>C , CM000663.2:g.18890033A>C | GRCh38 |
| NC_000001.10:g.19216527A>C , CM000663.1:g.19216527A>C | GRCh37 |
| NC_000001.9:g.19089114A>C | NCBI36 |
| NG_012283.1:g.17767T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375341.8:c.135T>G MANE Select | ENSP00000364490.3:p.Pro45= | |
| ENST00000290597.9:c.135T>G | ENSP00000290597.5:p.Pro45= | |
| ENST00000375341.7:c.135T>G | ENSP00000364490.3:p.Pro45= | |
| ENST00000432718.1:c.135T>G | ENSP00000393209.1:p.Pro45= | |
| ENST00000494072.3:c.1072T>G | ||
| ENST00000538309.5:c.-46T>G | ENSP00000442988.1:n.-46T>G | |
| ENST00000538839.5:c.135T>G | ENSP00000446071.1:p.Pro45= | |
| NM_001161504.1:c.-46T>G | NP_001154976.1:n.-46T>G | |
| NM_003748.3:c.135T>G | NP_003739.2:p.Pro45= | |
| NM_170726.2:c.135T>G | NP_733844.1:p.Pro45= | |
| XM_011542352.1:c.135T>G | XP_011540654.1:p.Pro45= | |
| XM_011542353.1:c.135T>G | XP_011540655.1:p.Pro45= | |
| XR_946786.1:n.192T>G | ||
| NM_001319218.1:c.135T>G | NP_001306147.1:p.Pro45= | |
| XR_001737510.1:n.192T>G | ||
| NM_003748.4:c.135T>G MANE Select | NP_003739.2:p.Pro45= | |
| NM_170726.3:c.135T>G | NP_733844.1:p.Pro45= | |
| NM_001161504.2:c.-46T>G | NP_001154976.1:n.-46T>G | |
| NM_001319218.2:c.135T>G | NP_001306147.1:p.Pro45= |