Linked Data
ClinVar Variation Id:
344304
dbSNP Id:
rs142867987
ExAC:
3:182738001 G / A
gnomAD v2:
3-182738001-G-A
gnomAD v3:
3-183020213-G-A
gnomAD v4:
3-183020213-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183020213G>A , CM000665.2:g.183020213G>A | GRCh38 |
| NC_000003.11:g.182738001G>A , CM000665.1:g.182738001G>A | GRCh37 |
| NC_000003.10:g.184220695G>A | NCBI36 |
| NG_008100.1:g.84365C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265594.9:c.1894C>T MANE Select | ENSP00000265594.4:p.Pro632Ser | |
| ENST00000265594.8:c.1894C>T | ENSP00000265594.4:p.Pro632Ser | |
| ENST00000464601.5:n.326C>T | ||
| ENST00000476176.5:c.1753C>T | ENSP00000420433.1:p.Pro585Ser | |
| ENST00000492597.5:c.1567C>T | ENSP00000419898.1:p.Pro523Ser | |
| ENST00000495767.5:c.*1425C>T | ENSP00000419658.1:n.*1425C>T | |
| ENST00000497830.5:c.*1491C>T | ENSP00000420088.1:n.*1491C>T | |
| ENST00000497959.5:c.*355C>T | ENSP00000420648.1:n.*355C>T | |
| ENST00000539926.5:c.1444C>T | ENSP00000441253.2:p.Pro482Ser | |
| ENST00000610757.4:c.1444C>T | ENSP00000480435.1:p.Pro482Ser | |
| ENST00000629669.2:c.*258C>T | ENSP00000486824.1:n.*258C>T | |
| NM_001293273.1:c.1543C>T | NP_001280202.1:p.Pro515Ser | |
| NM_020166.4:c.1894C>T | NP_064551.3:p.Pro632Ser | |
| NR_120639.1:n.1758C>T | ||
| NR_120640.1:n.2441C>T | ||
| XM_006713702.1:c.1567C>T | XP_006713765.1:p.Pro523Ser | |
| XM_011512992.1:c.1780C>T | XP_011511294.1:p.Pro594Ser | |
| XR_241502.2:n.1824C>T | ||
| NM_001363880.1:c.1567C>T | NP_001350809.1:p.Pro523Ser | |
| XM_011512992.2:c.1780C>T | XP_011511294.1:p.Pro594Ser | |
| XR_001740207.2:n.2114C>T | ||
| XR_001740208.2:n.1967C>T | ||
| XR_001740209.2:n.1720C>T | ||
| XR_001740210.1:n.1797C>T | ||
| XR_241502.3:n.1770C>T | ||
| NM_020166.5:c.1894C>T MANE Select | NP_064551.3:p.Pro632Ser | |
| NM_001293273.2:c.1543C>T | NP_001280202.1:p.Pro515Ser | |
| NR_120639.2:n.1667C>T | ||
| NR_120640.2:n.2441C>T |