Linked Data
ClinVar Variation Id:
17490
dbSNP Id:
rs121912827
ExAC:
2:228153938 G / T
gnomAD v2:
2-228153938-G-T
gnomAD v4:
2-227289222-G-T
PubMed:
PMID:11961012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227289222G>T , CM000664.2:g.227289222G>T | GRCh38 |
| NC_000002.11:g.228153938G>T , CM000664.1:g.228153938G>T | GRCh37 |
| NC_000002.10:g.227862182G>T | NCBI36 |
| NG_011591.1:g.129658G>T , LRG_230:g.129658G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.2954G>T (COL4A3) MANE Select | ENSP00000379823.3:p.Gly985Val | |
| ENST00000304990.8:c.65G>T (COL4A3) | ENSP00000302781.8:p.Gly22Val | |
| ENST00000396578.7:c.2954G>T (COL4A3) | ENSP00000379823.3:p.Gly985Val | |
| ENST00000487633.1:n.115G>T (COL4A3) | ||
| NM_000091.4:c.2954G>T , LRG_230t1:c.2954G>T (COL4A3) | NP_000082.2:p.Gly985Val | |
| NR_102371.1:n.244-7433C>A (MFF-DT) | ||
| XM_005246276.2:c.2954G>T (COL4A3) | XP_005246333.1:p.Gly985Val | |
| XM_005246277.2:c.2849G>T (COL4A3) | XP_005246334.1:p.Gly950Val | |
| XM_005246280.2:c.2954G>T (COL4A3) | XP_005246337.1:p.Gly985Val | |
| XM_006712245.2:c.2954G>T (COL4A3) | XP_006712308.1:p.Gly985Val | |
| XM_011510555.1:c.2954G>T (COL4A3) | XP_011508857.1:p.Gly985Val | |
| XM_011510556.1:c.1715G>T (COL4A3) | XP_011508858.1:p.Gly572Val | |
| XR_241280.2:n.3092G>T (COL4A3) | ||
| XM_005246277.3:c.2849G>T (COL4A3) | XP_005246334.1:p.Gly950Val | |
| XM_005246280.3:c.2954G>T (COL4A3) | XP_005246337.1:p.Gly985Val | |
| XM_006712245.3:c.2954G>T (COL4A3) | XP_006712308.1:p.Gly985Val | |
| XM_011510556.2:c.1715G>T (COL4A3) | XP_011508858.1:p.Gly572Val | |
| XM_017003295.1:c.2954G>T (COL4A3) | XP_016858784.1:p.Gly985Val | |
| XR_001738601.1:n.3092G>T (COL4A3) | ||
| XR_241280.3:n.3092G>T (COL4A3) | ||
| NM_000091.5:c.2954G>T (COL4A3) MANE Select | NP_000082.2:p.Gly985Val |