Linked Data
ClinVar Variation Id:
1316
ClinVar RCV Id:
RCV002490290
dbSNP Id:
rs121909394
ExAC:
20:3208983 A / G
gnomAD v2:
20-3208983-A-G
gnomAD v3:
20-3228337-A-G
gnomAD v4:
20-3228337-A-G
PubMed:
PMID:17220209
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3228337A>G , CM000682.2:g.3228337A>G | GRCh38 |
| NC_000020.10:g.3208983A>G , CM000682.1:g.3208983A>G | GRCh37 |
| NC_000020.9:g.3156983A>G | NCBI36 |
| NG_017072.1:g.15905T>C | |
| NG_012093.2:g.24471A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642402.1:c.2480T>C MANE Select | ENSP00000493503.1:p.Leu827Pro | |
| ENST00000644011.1:c.2411T>C | ENSP00000496214.1:p.Leu804Pro | |
| ENST00000644692.1:c.2279T>C | ENSP00000493824.1:p.Leu760Pro | |
| ENST00000647296.1:c.2366T>C | ENSP00000495050.1:p.Leu789Pro | |
| ENST00000380056.7:c.2528T>C | ENSP00000369396.3:p.Leu843Pro | |
| ENST00000380059.7:c.2609T>C | ENSP00000369399.3:p.Leu870Pro | |
| ENST00000474451.5:c.*628T>C | ENSP00000476859.1:n.*628T>C | |
| ENST00000539553.6:c.2480T>C | ENSP00000441370.1:p.Leu827Pro | |
| NM_001174089.1:c.2480T>C | NP_001167560.1:p.Leu827Pro | |
| NM_001174090.1:c.2609T>C | NP_001167561.1:p.Leu870Pro | |
| NM_032034.3:c.2528T>C | NP_114423.1:p.Leu843Pro | |
| XM_005260856.3:c.2849T>C | XP_005260913.1:p.Leu950Pro | |
| XM_005260857.1:c.2423T>C | XP_005260914.1:p.Leu808Pro | |
| XM_011529383.1:c.2447T>C | XP_011527685.1:p.Leu816Pro | |
| XM_011529384.1:c.2423T>C | XP_011527686.1:p.Leu808Pro | |
| XM_011529385.1:c.2423T>C | XP_011527687.1:p.Leu808Pro | |
| XR_937167.1:n.2578T>C | ||
| NM_001363745.1:c.2366T>C | NP_001350674.1:p.Leu789Pro | |
| NR_135000.1:n.2578T>C | ||
| XM_005260856.5:c.2849T>C | XP_005260913.1:p.Leu950Pro | |
| XM_011529383.3:c.2447T>C | XP_011527685.1:p.Leu816Pro | |
| XM_017028093.1:c.2843T>C | XP_016883582.1:p.Leu948Pro | |
| XM_017028094.1:c.2423T>C | XP_016883583.1:p.Leu808Pro | |
| XM_017028096.1:c.2423T>C | XP_016883585.1:p.Leu808Pro | |
| XR_001754419.1:n.3023T>C | ||
| XR_001754420.2:n.3003T>C | ||
| NM_001174089.2:c.2480T>C MANE Select | NP_001167560.1:p.Leu827Pro | |
| NM_001363745.2:c.2366T>C | NP_001350674.1:p.Leu789Pro | |
| NM_001174090.2:c.2609T>C | NP_001167561.1:p.Leu870Pro | |
| NM_032034.4:c.2528T>C | NP_114423.1:p.Leu843Pro | |
| NM_001400277.1:c.2423T>C | NP_001387206.1:p.Leu808Pro | |
| NM_001400278.1:c.2423T>C | NP_001387207.1:p.Leu808Pro | |
| NM_001400279.1:c.2423T>C | NP_001387208.1:p.Leu808Pro | |
| NM_001400280.1:c.2495T>C | NP_001387209.1:p.Leu832Pro | |
| NR_174470.1:n.3003T>C | ||
| NR_174471.1:n.2988T>C |