Linked Data
ClinVar Variation Id:
517579
dbSNP Id:
rs375503109
ExAC:
2:228115882 T / C
gnomAD v2:
2-228115882-T-C
gnomAD v3:
2-227251166-T-C
gnomAD v4:
2-227251166-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227251166T>C , CM000664.2:g.227251166T>C | GRCh38 |
| NC_000002.11:g.228115882T>C , CM000664.1:g.228115882T>C | GRCh37 |
| NC_000002.10:g.227824126T>C | NCBI36 |
| NG_011591.1:g.91602T>C , LRG_230:g.91602T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.573T>C (COL4A3) MANE Select | ENSP00000379823.3:p.Pro191= | |
| ENST00000396578.7:c.573T>C (COL4A3) | ENSP00000379823.3:p.Pro191= | |
| NM_000091.4:c.573T>C , LRG_230t1:c.573T>C (COL4A3) | NP_000082.2:p.Pro191= | |
| NR_102371.1:n.1592+8012A>G (MFF-DT) | ||
| XM_005246276.2:c.573T>C (COL4A3) | XP_005246333.1:p.Pro191= | |
| XM_005246277.2:c.573T>C (COL4A3) | XP_005246334.1:p.Pro191= | |
| XM_005246280.2:c.573T>C (COL4A3) | XP_005246337.1:p.Pro191= | |
| XM_006712245.2:c.573T>C (COL4A3) | XP_006712308.1:p.Pro191= | |
| XM_011510555.1:c.573T>C (COL4A3) | XP_011508857.1:p.Pro191= | |
| XR_241280.2:n.711T>C (COL4A3) | ||
| XM_005246277.3:c.573T>C (COL4A3) | XP_005246334.1:p.Pro191= | |
| XM_005246280.3:c.573T>C (COL4A3) | XP_005246337.1:p.Pro191= | |
| XM_006712245.3:c.573T>C (COL4A3) | XP_006712308.1:p.Pro191= | |
| XM_017003295.1:c.573T>C (COL4A3) | XP_016858784.1:p.Pro191= | |
| XR_001738601.1:n.711T>C (COL4A3) | ||
| XR_241280.3:n.711T>C (COL4A3) | ||
| NM_000091.5:c.573T>C (COL4A3) MANE Select | NP_000082.2:p.Pro191= |