Linked Data
ClinVar Variation Id:
2278579
ClinVar RCV Id:
RCV004131440
dbSNP Id:
rs3821917
ExAC:
3:129370346 C / G
gnomAD v2:
3-129370346-C-G
gnomAD v3:
3-129651503-C-G
gnomAD v4:
3-129651503-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129651503C>G , CM000665.2:g.129651503C>G | GRCh38 |
| NC_000003.11:g.129370346C>G , CM000665.1:g.129370346C>G | GRCh37 |
| NC_000003.10:g.130853036C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698214.1:c.1391G>C | ENSP00000513608.1:p.Arg464Pro | |
| ENST00000698215.1:c.1403G>C | ENSP00000513609.1:p.Arg468Pro | |
| ENST00000393238.8:c.1940G>C MANE Select | ENSP00000376930.3:p.Arg647Pro | |
| ENST00000648771.1:c.1598G>C | ENSP00000497993.1:p.Arg533Pro | |
| ENST00000393238.7:c.1940G>C | ENSP00000376930.3:p.Arg647Pro | |
| ENST00000426664.6:c.1598G>C | ENSP00000389892.2:p.Arg533Pro | |
| ENST00000432054.6:c.968G>C | ENSP00000404711.2:p.Arg323Pro | |
| NM_001017395.3:c.1940G>C | NP_001017395.2:p.Arg647Pro | |
| NM_001128224.2:c.1598G>C | NP_001121696.1:p.Arg533Pro | |
| NR_033361.1:n.1920G>C | ||
| XM_006713542.2:c.1940G>C | XP_006713605.1:p.Arg647Pro | |
| XM_006713543.2:c.1940G>C | XP_006713606.1:p.Arg647Pro | |
| XM_006713544.1:c.1940G>C | XP_006713607.1:p.Arg647Pro | |
| XM_006713545.2:c.1940G>C | XP_006713608.1:p.Arg647Pro | |
| XM_006713550.2:c.1598G>C | XP_006713613.1:p.Arg533Pro | |
| XM_006713552.2:c.1421G>C | XP_006713615.1:p.Arg474Pro | |
| XM_006713553.2:c.1391G>C | XP_006713616.1:p.Arg464Pro | |
| XM_011512568.1:c.1940G>C | XP_011510870.1:p.Arg647Pro | |
| XM_011512569.1:c.1940G>C | XP_011510871.1:p.Arg647Pro | |
| XM_011512570.1:c.1940G>C | XP_011510872.1:p.Arg647Pro | |
| XM_011512571.1:c.1940G>C | XP_011510873.1:p.Arg647Pro | |
| XM_011512572.1:c.1940G>C | XP_011510874.1:p.Arg647Pro | |
| XM_011512573.1:c.1940G>C | XP_011510875.1:p.Arg647Pro | |
| XM_011512574.1:c.1940G>C | XP_011510876.1:p.Arg647Pro | |
| XM_011512575.1:c.1940G>C | XP_011510877.1:p.Arg647Pro | |
| XM_011512576.1:c.1940G>C | XP_011510878.1:p.Arg647Pro | |
| XM_011512577.1:c.1940G>C | XP_011510879.1:p.Arg647Pro | |
| XM_011512578.1:c.1940G>C | XP_011510880.1:p.Arg647Pro | |
| XM_011512579.1:c.1940G>C | XP_011510881.1:p.Arg647Pro | |
| XM_011512580.1:c.1598G>C | XP_011510882.1:p.Arg533Pro | |
| XM_011512581.1:c.1598G>C | XP_011510883.1:p.Arg533Pro | |
| XM_011512582.1:c.1403G>C | XP_011510884.1:p.Arg468Pro | |
| XM_011512583.1:c.1370G>C | XP_011510885.1:p.Arg457Pro | |
| XM_011512584.1:c.1370G>C | XP_011510886.1:p.Arg457Pro | |
| NM_001017395.4:c.1940G>C | NP_001017395.2:p.Arg647Pro | |
| NM_001349263.1:c.1940G>C | NP_001336192.1:p.Arg647Pro | |
| NM_001349264.1:c.1940G>C | NP_001336193.1:p.Arg647Pro | |
| NM_001349265.1:c.1940G>C | NP_001336194.1:p.Arg647Pro | |
| NM_001349266.1:c.1940G>C | NP_001336195.1:p.Arg647Pro | |
| NM_001349268.1:c.1940G>C | NP_001336197.1:p.Arg647Pro | |
| NM_001349269.1:c.1598G>C | NP_001336198.1:p.Arg533Pro | |
| NM_001349270.1:c.1598G>C | NP_001336199.1:p.Arg533Pro | |
| NM_001349271.1:c.1568G>C | NP_001336200.1:p.Arg523Pro | |
| NM_001349272.1:c.1421G>C | NP_001336201.1:p.Arg474Pro | |
| NM_001349273.1:c.1403G>C | NP_001336202.1:p.Arg468Pro | |
| NM_001349274.1:c.1391G>C | NP_001336203.1:p.Arg464Pro | |
| NM_001349275.1:c.1370G>C | NP_001336204.1:p.Arg457Pro | |
| NM_001349276.1:c.1370G>C | NP_001336205.1:p.Arg457Pro | |
| NM_015008.5:c.968G>C | NP_055823.1:p.Arg323Pro | |
| XM_011512573.2:c.1940G>C | XP_011510875.1:p.Arg647Pro | |
| XM_011512580.2:c.1598G>C | XP_011510882.1:p.Arg533Pro | |
| XM_011512583.2:c.1370G>C | XP_011510885.1:p.Arg457Pro | |
| XM_017005931.1:c.1940G>C | XP_016861420.1:p.Arg647Pro | |
| XM_017005933.1:c.1940G>C | XP_016861422.1:p.Arg647Pro | |
| XM_017005934.1:c.1598G>C | XP_016861423.1:p.Arg533Pro | |
| XM_017005935.1:c.1598G>C | XP_016861424.1:p.Arg533Pro | |
| XM_017005937.1:c.1598G>C | XP_016861426.1:p.Arg533Pro | |
| XM_017005938.1:c.1598G>C | XP_016861427.1:p.Arg533Pro | |
| XM_017005939.1:c.1598G>C | XP_016861428.1:p.Arg533Pro | |
| XM_024453406.1:c.1598G>C | XP_024309174.1:p.Arg533Pro | |
| XM_024453407.1:c.1370G>C | XP_024309175.1:p.Arg457Pro | |
| NM_001017395.5:c.1940G>C MANE Select | NP_001017395.2:p.Arg647Pro | |
| NM_001349263.2:c.1940G>C | NP_001336192.1:p.Arg647Pro | |
| NM_001349264.2:c.1940G>C | NP_001336193.1:p.Arg647Pro | |
| NM_001349265.2:c.1940G>C | NP_001336194.1:p.Arg647Pro | |
| NM_001349266.2:c.1940G>C | NP_001336195.1:p.Arg647Pro | |
| NM_001349268.2:c.1940G>C | NP_001336197.1:p.Arg647Pro | |
| NM_001349269.2:c.1598G>C | NP_001336198.1:p.Arg533Pro | |
| NM_001349270.2:c.1598G>C | NP_001336199.1:p.Arg533Pro | |
| NM_001349271.2:c.1568G>C | NP_001336200.1:p.Arg523Pro | |
| NM_001349273.2:c.1403G>C | NP_001336202.1:p.Arg468Pro | |
| NM_001349274.2:c.1391G>C | NP_001336203.1:p.Arg464Pro | |
| NM_001349275.2:c.1370G>C | NP_001336204.1:p.Arg457Pro | |
| NM_001349276.2:c.1370G>C | NP_001336205.1:p.Arg457Pro | |
| NM_001128224.3:c.1598G>C | NP_001121696.1:p.Arg533Pro |