Linked Data
ClinVar Variation Id:
786767
ClinVar RCV Id:
RCV000968880
dbSNP Id:
rs34544438
ExAC:
6:167438292 G / C
gnomAD v2:
6-167438292-G-C
gnomAD v3:
6-167024804-G-C
gnomAD v4:
6-167024804-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167024804G>C , CM000668.2:g.167024804G>C | GRCh38 |
| NC_000006.11:g.167438292G>C , CM000668.1:g.167438292G>C | GRCh37 |
| NC_000006.10:g.167358282G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349556.5:c.769G>C | ENSP00000230248.6:p.Ala257Pro | |
| ENST00000488525.2:c.825G>C | ENSP00000516042.1:p.Lys275Asn | |
| ENST00000609590.2:n.1701G>C | ||
| ENST00000704900.1:c.406G>C | ENSP00000516059.1:p.Ala136Pro | |
| ENST00000704901.1:c.*416G>C | ENSP00000516060.1:n.*416G>C | |
| ENST00000704959.1:n.1094G>C | ||
| ENST00000704982.1:n.1539G>C | ||
| ENST00000704985.1:n.1935G>C | ||
| ENST00000704986.1:n.1935G>C | ||
| ENST00000705029.1:n.1660G>C | ||
| ENST00000705059.1:n.1484G>C | ||
| ENST00000705168.1:c.82G>C | ENSP00000516071.1:p.Ala28Pro | |
| ENST00000705169.1:c.82G>C | ENSP00000516072.1:p.Ala28Pro | |
| ENST00000705170.1:c.82G>C | ENSP00000516073.1:p.Ala28Pro | |
| ENST00000705171.1:n.874G>C | ||
| ENST00000705173.1:c.*138G>C | ENSP00000516075.1:n.*138G>C | |
| ENST00000705175.1:c.955G>C | ENSP00000516077.1:p.Ala319Pro | |
| ENST00000705176.1:c.1015G>C | ENSP00000516078.1:p.Ala339Pro | |
| ENST00000705177.1:c.*413G>C | ENSP00000516079.1:n.*413G>C | |
| ENST00000705178.1:c.352G>C | ENSP00000516080.1:p.Ala118Pro | |
| ENST00000705179.1:c.547G>C | ENSP00000516081.1:p.Ala183Pro | |
| ENST00000705180.1:c.487G>C | ENSP00000516082.1:p.Ala163Pro | |
| ENST00000705235.1:c.829G>C | ENSP00000516093.1:p.Ala277Pro | |
| ENST00000705236.1:c.769G>C | ENSP00000516094.1:p.Ala257Pro | |
| ENST00000705237.1:c.487G>C | ENSP00000516095.1:p.Ala163Pro | |
| ENST00000705238.1:c.688G>C | ENSP00000516096.1:p.Ala230Pro | |
| ENST00000705239.1:c.766G>C | ENSP00000516097.1:p.Ala256Pro | |
| ENST00000705240.1:c.*438G>C | ENSP00000516098.1:n.*438G>C | |
| ENST00000705241.1:c.765G>C | ENSP00000516099.1:p.Lys255Asn | |
| ENST00000705242.1:c.766G>C | ENSP00000516100.1:p.Ala256Pro | |
| ENST00000705249.1:c.769G>C | ENSP00000516101.1:p.Ala257Pro | |
| ENST00000705250.1:c.547G>C | ENSP00000516102.1:p.Ala183Pro | |
| ENST00000705251.1:c.*416G>C | ENSP00000516103.1:n.*416G>C | |
| ENST00000705252.1:c.*239G>C | ENSP00000516104.1:n.*239G>C | |
| ENST00000705253.1:c.*239G>C | ENSP00000516105.1:n.*239G>C | |
| ENST00000705254.1:c.376G>C | ENSP00000516106.1:p.Ala126Pro | |
| ENST00000705255.1:n.1395G>C | ||
| ENST00000705256.1:c.826G>C | ENSP00000516107.1:p.Ala276Pro | |
| ENST00000366847.9:c.829G>C MANE Select | ENSP00000355812.3:p.Ala277Pro | |
| ENST00000349556.4:c.769G>C | ENSP00000230248.6:p.Ala257Pro | |
| ENST00000366847.8:c.829G>C | ENSP00000355812.3:p.Ala277Pro | |
| ENST00000488525.1:n.15G>C | ||
| ENST00000496181.1:n.233G>C | ||
| ENST00000622353.4:c.688G>C | ENSP00000479115.1:p.Ala230Pro | |
| NM_001278690.1:c.688G>C | NP_001265619.1:p.Ala230Pro | |
| NM_007045.3:c.829G>C | NP_008976.1:p.Ala277Pro | |
| NM_194429.2:c.769G>C | NP_919410.1:p.Ala257Pro | |
| NM_007045.4:c.829G>C MANE Select | NP_008976.1:p.Ala277Pro | |
| NM_194429.3:c.769G>C | NP_919410.1:p.Ala257Pro | |
| NM_001278690.2:c.688G>C | NP_001265619.1:p.Ala230Pro |