Linked Data
dbSNP Id:
rs1342784735
gnomAD v2:
6-167438283-A-G
gnomAD v3:
6-167024795-A-G
gnomAD v4:
6-167024795-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167024795A>G , CM000668.2:g.167024795A>G | GRCh38 |
| NC_000006.11:g.167438283A>G , CM000668.1:g.167438283A>G | GRCh37 |
| NC_000006.10:g.167358273A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349556.5:c.760A>G | ENSP00000230248.6:p.Arg254Gly | |
| ENST00000488525.2:c.816A>G | ENSP00000516042.1:p.Leu272= | |
| ENST00000609590.2:n.1692A>G | ||
| ENST00000704900.1:c.397A>G | ENSP00000516059.1:p.Arg133Gly | |
| ENST00000704901.1:c.*407A>G | ENSP00000516060.1:n.*407A>G | |
| ENST00000704959.1:n.1085A>G | ||
| ENST00000704982.1:n.1530A>G | ||
| ENST00000704985.1:n.1926A>G | ||
| ENST00000704986.1:n.1926A>G | ||
| ENST00000705029.1:n.1651A>G | ||
| ENST00000705059.1:n.1475A>G | ||
| ENST00000705168.1:c.73A>G | ENSP00000516071.1:p.Arg25Gly | |
| ENST00000705169.1:c.73A>G | ENSP00000516072.1:p.Arg25Gly | |
| ENST00000705170.1:c.73A>G | ENSP00000516073.1:p.Arg25Gly | |
| ENST00000705171.1:n.865A>G | ||
| ENST00000705173.1:c.*129A>G | ENSP00000516075.1:n.*129A>G | |
| ENST00000705175.1:c.946A>G | ENSP00000516077.1:p.Arg316Gly | |
| ENST00000705176.1:c.1006A>G | ENSP00000516078.1:p.Arg336Gly | |
| ENST00000705177.1:c.*404A>G | ENSP00000516079.1:n.*404A>G | |
| ENST00000705178.1:c.343A>G | ENSP00000516080.1:p.Arg115Gly | |
| ENST00000705179.1:c.538A>G | ENSP00000516081.1:p.Arg180Gly | |
| ENST00000705180.1:c.478A>G | ENSP00000516082.1:p.Arg160Gly | |
| ENST00000705235.1:c.820A>G | ENSP00000516093.1:p.Arg274Gly | |
| ENST00000705236.1:c.760A>G | ENSP00000516094.1:p.Arg254Gly | |
| ENST00000705237.1:c.478A>G | ENSP00000516095.1:p.Arg160Gly | |
| ENST00000705238.1:c.679A>G | ENSP00000516096.1:p.Arg227Gly | |
| ENST00000705239.1:c.757A>G | ENSP00000516097.1:p.Arg253Gly | |
| ENST00000705240.1:c.*429A>G | ENSP00000516098.1:n.*429A>G | |
| ENST00000705241.1:c.756A>G | ENSP00000516099.1:p.Leu252= | |
| ENST00000705242.1:c.757A>G | ENSP00000516100.1:p.Arg253Gly | |
| ENST00000705249.1:c.760A>G | ENSP00000516101.1:p.Arg254Gly | |
| ENST00000705250.1:c.538A>G | ENSP00000516102.1:p.Arg180Gly | |
| ENST00000705251.1:c.*407A>G | ENSP00000516103.1:n.*407A>G | |
| ENST00000705252.1:c.*230A>G | ENSP00000516104.1:n.*230A>G | |
| ENST00000705253.1:c.*230A>G | ENSP00000516105.1:n.*230A>G | |
| ENST00000705254.1:c.367A>G | ENSP00000516106.1:p.Arg123Gly | |
| ENST00000705255.1:n.1386A>G | ||
| ENST00000705256.1:c.817A>G | ENSP00000516107.1:p.Arg273Gly | |
| ENST00000366847.9:c.820A>G MANE Select | ENSP00000355812.3:p.Arg274Gly | |
| ENST00000349556.4:c.760A>G | ENSP00000230248.6:p.Arg254Gly | |
| ENST00000366847.8:c.820A>G | ENSP00000355812.3:p.Arg274Gly | |
| ENST00000488525.1:n.6A>G | ||
| ENST00000496181.1:n.224A>G | ||
| ENST00000622353.4:c.679A>G | ENSP00000479115.1:p.Arg227Gly | |
| NM_001278690.1:c.679A>G | NP_001265619.1:p.Arg227Gly | |
| NM_007045.3:c.820A>G | NP_008976.1:p.Arg274Gly | |
| NM_194429.2:c.760A>G | NP_919410.1:p.Arg254Gly | |
| NM_007045.4:c.820A>G MANE Select | NP_008976.1:p.Arg274Gly | |
| NM_194429.3:c.760A>G | NP_919410.1:p.Arg254Gly | |
| NM_001278690.2:c.679A>G | NP_001265619.1:p.Arg227Gly |