Linked Data
ClinVar Variation Id:
139544
ClinVar RCV Id:
RCV000128443
dbSNP Id:
rs587777487
ExAC:
12:94727303 C / G
gnomAD v2:
12-94727303-C-G
gnomAD v3:
12-94333527-C-G
gnomAD v4:
12-94333527-C-G
PubMed:
PMID:24882706
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.94333527C>G , CM000674.2:g.94333527C>G | GRCh38 |
| NC_000012.11:g.94727303C>G , CM000674.1:g.94727303C>G | GRCh37 |
| NC_000012.10:g.93251434C>G | NCBI36 |
| NG_051825.1:g.131462G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397809.10:c.1532G>C MANE Select | ENSP00000380911.4:p.Arg511Pro | |
| ENST00000339839.9:c.1532G>C | ENSP00000344655.5:p.Arg511Pro | |
| ENST00000397807.6:c.1145G>C | ENSP00000380909.3:p.Arg382Pro | |
| ENST00000397809.9:c.1532G>C | ENSP00000380911.4:p.Arg511Pro | |
| ENST00000546587.1:n.408G>C | ||
| ENST00000547232.5:c.1433G>C | ENSP00000447783.1:p.Arg478Pro | |
| NM_001042399.1:c.1532G>C | NP_001035858.1:p.Arg511Pro | |
| NM_016122.2:c.1532G>C | NP_057206.2:p.Arg511Pro | |
| XM_005268942.1:c.1532G>C | XP_005268999.1:p.Arg511Pro | |
| XM_006719437.1:c.1532G>C | XP_006719500.1:p.Arg511Pro | |
| XM_011538424.1:c.1532G>C | XP_011536726.1:p.Arg511Pro | |
| XM_011538425.1:c.1532G>C | XP_011536727.1:p.Arg511Pro | |
| XM_011538426.1:c.1532G>C | XP_011536728.1:p.Arg511Pro | |
| XM_011538427.1:c.1220G>C | XP_011536729.1:p.Arg407Pro | |
| XM_011538428.1:c.1145G>C | XP_011536730.1:p.Arg382Pro | |
| XM_011538429.1:c.1118G>C | XP_011536731.1:p.Arg373Pro | |
| XM_011538430.1:c.1532G>C | XP_011536732.1:p.Arg511Pro | |
| XR_944562.1:n.2059G>C | ||
| XR_944563.1:n.2059G>C | ||
| XR_944564.1:n.2059G>C | ||
| XR_944565.1:n.2059G>C | ||
| XR_944566.1:n.2059G>C | ||
| XR_944567.1:n.2059G>C | ||
| XR_944568.1:n.2059G>C | ||
| NM_001346457.1:c.1532G>C | NP_001333386.1:p.Arg511Pro | |
| NM_001346458.1:c.1220G>C | NP_001333387.1:p.Arg407Pro | |
| NM_001346459.1:c.1220G>C | NP_001333388.1:p.Arg407Pro | |
| XM_011538424.2:c.1532G>C | XP_011536726.1:p.Arg511Pro | |
| XM_017019385.2:c.1532G>C | XP_016874874.1:p.Arg511Pro | |
| XM_017019386.2:c.1532G>C | XP_016874875.1:p.Arg511Pro | |
| XM_017019388.1:c.1163G>C | XP_016874877.1:p.Arg388Pro | |
| XM_017019389.2:c.1145G>C | XP_016874878.1:p.Arg382Pro | |
| XM_024449002.1:c.1532G>C | XP_024304770.1:p.Arg511Pro | |
| XM_024449003.1:c.1163G>C | XP_024304771.1:p.Arg388Pro | |
| XM_024449004.1:c.1163G>C | XP_024304772.1:p.Arg388Pro | |
| XM_024449005.1:c.1118G>C | XP_024304773.1:p.Arg373Pro | |
| XM_024449006.1:c.758G>C | XP_024304774.1:p.Arg253Pro | |
| XM_024449007.1:c.758G>C | XP_024304775.1:p.Arg253Pro | |
| XR_001748731.2:n.2081G>C | ||
| XR_001748732.2:n.2081G>C | ||
| XR_001748733.2:n.2081G>C | ||
| XR_001748734.2:n.2081G>C | ||
| XR_001748735.2:n.2081G>C | ||
| XR_001748736.2:n.2081G>C | ||
| XR_001748737.2:n.2081G>C | ||
| XR_001748739.2:n.2202G>C | ||
| XR_002957332.1:n.2081G>C | ||
| XR_002957333.1:n.2615G>C | ||
| NM_001346457.2:c.1532G>C | NP_001333386.1:p.Arg511Pro | |
| NM_001368037.1:c.1532G>C | NP_001354966.1:p.Arg511Pro | |
| NM_001368038.1:c.1532G>C | NP_001354967.1:p.Arg511Pro | |
| NM_001368039.1:c.1220G>C | NP_001354968.1:p.Arg407Pro | |
| NM_001368040.1:c.1220G>C | NP_001354969.1:p.Arg407Pro | |
| NM_001368041.1:c.1307G>C | NP_001354970.1:p.Arg436Pro | |
| NM_016122.3:c.1532G>C MANE Select | NP_057206.2:p.Arg511Pro | |
| NR_160431.1:n.1256G>C | ||
| NR_160432.1:n.2277G>C | ||
| NM_001042399.2:c.1532G>C | NP_001035858.1:p.Arg511Pro | |
| NM_001346458.2:c.1220G>C | NP_001333387.1:p.Arg407Pro | |
| NM_001346459.2:c.1220G>C | NP_001333388.1:p.Arg407Pro |