Linked Data
dbSNP Id:
rs778855080
ExAC:
6:167438325 C / G
gnomAD v2:
6-167438325-C-G
gnomAD v3:
6-167024837-C-G
gnomAD v4:
6-167024837-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167024837C>G , CM000668.2:g.167024837C>G | GRCh38 |
| NC_000006.11:g.167438325C>G , CM000668.1:g.167438325C>G | GRCh37 |
| NC_000006.10:g.167358315C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349556.5:c.802C>G | ENSP00000230248.6:p.Pro268Ala | |
| ENST00000488525.2:c.858C>G | ENSP00000516042.1:p.Pro286= | |
| ENST00000609590.2:n.1734C>G | ||
| ENST00000704900.1:c.439C>G | ENSP00000516059.1:p.Pro147Ala | |
| ENST00000704901.1:c.*449C>G | ENSP00000516060.1:n.*449C>G | |
| ENST00000704959.1:n.1127C>G | ||
| ENST00000704982.1:n.1572C>G | ||
| ENST00000704985.1:n.1968C>G | ||
| ENST00000704986.1:n.1968C>G | ||
| ENST00000705029.1:n.1693C>G | ||
| ENST00000705059.1:n.1517C>G | ||
| ENST00000705168.1:c.115C>G | ENSP00000516071.1:p.Pro39Ala | |
| ENST00000705169.1:c.115C>G | ENSP00000516072.1:p.Pro39Ala | |
| ENST00000705170.1:c.115C>G | ENSP00000516073.1:p.Pro39Ala | |
| ENST00000705171.1:n.907C>G | ||
| ENST00000705173.1:c.*171C>G | ENSP00000516075.1:n.*171C>G | |
| ENST00000705175.1:c.988C>G | ENSP00000516077.1:p.Pro330Ala | |
| ENST00000705176.1:c.1048C>G | ENSP00000516078.1:p.Pro350Ala | |
| ENST00000705177.1:c.*446C>G | ENSP00000516079.1:n.*446C>G | |
| ENST00000705178.1:c.385C>G | ENSP00000516080.1:p.Pro129Ala | |
| ENST00000705179.1:c.580C>G | ENSP00000516081.1:p.Pro194Ala | |
| ENST00000705180.1:c.520C>G | ENSP00000516082.1:p.Pro174Ala | |
| ENST00000705235.1:c.862C>G | ENSP00000516093.1:p.Pro288Ala | |
| ENST00000705236.1:c.802C>G | ENSP00000516094.1:p.Pro268Ala | |
| ENST00000705237.1:c.520C>G | ENSP00000516095.1:p.Pro174Ala | |
| ENST00000705238.1:c.721C>G | ENSP00000516096.1:p.Pro241Ala | |
| ENST00000705239.1:c.799C>G | ENSP00000516097.1:p.Pro267Ala | |
| ENST00000705240.1:c.*471C>G | ENSP00000516098.1:n.*471C>G | |
| ENST00000705241.1:c.798C>G | ENSP00000516099.1:p.Pro266= | |
| ENST00000705242.1:c.799C>G | ENSP00000516100.1:p.Pro267Ala | |
| ENST00000705249.1:c.802C>G | ENSP00000516101.1:p.Pro268Ala | |
| ENST00000705250.1:c.580C>G | ENSP00000516102.1:p.Pro194Ala | |
| ENST00000705251.1:c.*449C>G | ENSP00000516103.1:n.*449C>G | |
| ENST00000705252.1:c.*272C>G | ENSP00000516104.1:n.*272C>G | |
| ENST00000705253.1:c.*272C>G | ENSP00000516105.1:n.*272C>G | |
| ENST00000705254.1:c.409C>G | ENSP00000516106.1:p.Pro137Ala | |
| ENST00000705255.1:n.1428C>G | ||
| ENST00000705256.1:c.859C>G | ENSP00000516107.1:p.Pro287Ala | |
| ENST00000366847.9:c.862C>G MANE Select | ENSP00000355812.3:p.Pro288Ala | |
| ENST00000349556.4:c.802C>G | ENSP00000230248.6:p.Pro268Ala | |
| ENST00000366847.8:c.862C>G | ENSP00000355812.3:p.Pro288Ala | |
| ENST00000488525.1:n.48C>G | ||
| ENST00000496181.1:n.266C>G | ||
| ENST00000622353.4:c.721C>G | ENSP00000479115.1:p.Pro241Ala | |
| NM_001278690.1:c.721C>G | NP_001265619.1:p.Pro241Ala | |
| NM_007045.3:c.862C>G | NP_008976.1:p.Pro288Ala | |
| NM_194429.2:c.802C>G | NP_919410.1:p.Pro268Ala | |
| NM_007045.4:c.862C>G MANE Select | NP_008976.1:p.Pro288Ala | |
| NM_194429.3:c.802C>G | NP_919410.1:p.Pro268Ala | |
| NM_001278690.2:c.721C>G | NP_001265619.1:p.Pro241Ala |