Linked Data
ClinVar Variation Id:
390595
ClinVar RCV Id:
RCV000937224
dbSNP Id:
rs372007282
ExAC:
4:126238862 T / C
gnomAD v2:
4-126238862-T-C
gnomAD v3:
4-125317707-T-C
gnomAD v4:
4-125317707-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125317707T>C , CM000666.2:g.125317707T>C | GRCh38 |
| NC_000004.11:g.126238862T>C , CM000666.1:g.126238862T>C | GRCh37 |
| NC_000004.10:g.126458312T>C | NCBI36 |
| NG_033865.1:g.6296T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394329.9:c.1296T>C MANE Select | ENSP00000377862.4:p.Pro432= | |
| ENST00000674496.2:c.-55+1730T>C | ENSP00000501473.2:n.-55+1730T>C | |
| ENST00000394329.7:c.1296T>C | ENSP00000377862.3:p.Pro432= | |
| NM_001291285.1:c.1296T>C | NP_001278214.1:p.Pro432= | |
| NM_001291303.1:c.1296T>C | NP_001278232.1:p.Pro432= | |
| NM_024582.4:c.1296T>C | NP_078858.4:p.Pro432= | |
| XM_011532236.1:c.1296T>C | XP_011530538.1:p.Pro432= | |
| XM_011532237.1:c.-55+1730T>C | XP_011530539.1:n.-55+1730T>C | |
| XM_011532236.2:c.1296T>C | XP_011530538.1:p.Pro432= | |
| XM_011532237.2:c.-55+1730T>C | XP_011530539.1:n.-55+1730T>C | |
| NM_001291285.2:c.1296T>C | NP_001278214.1:p.Pro432= | |
| NM_001291303.3:c.1296T>C MANE Select | NP_001278232.1:p.Pro432= | |
| NM_024582.5:c.1296T>C | NP_078858.4:p.Pro432= | |
| NM_001291285.3:c.1296T>C | NP_001278214.1:p.Pro432= | |
| NM_024582.6:c.1296T>C | NP_078858.4:p.Pro432= |