Linked Data
dbSNP Id:
rs953235641
gnomAD v2:
6-52329806-A-G
gnomAD v3:
6-52465008-A-G
gnomAD v4:
6-52465008-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52465008A>G , CM000668.2:g.52465008A>G | GRCh38 |
| NC_000006.11:g.52329806A>G , CM000668.1:g.52329806A>G | GRCh37 |
| NC_000006.10:g.52437765A>G | NCBI36 |
| NG_016760.1:g.49813A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1030A>G MANE Select | ENSP00000360107.4:p.Ile344Val | |
| ENST00000480623.6:c.1030A>G | ENSP00000434498.2:p.Ile344Val | |
| ENST00000635760.1:c.706A>G | ENSP00000489765.1:p.Ile236Val | |
| ENST00000635812.1:c.*331A>G | ENSP00000490859.1:n.*331A>G | |
| ENST00000635866.1:c.*899A>G | ENSP00000489866.1:n.*899A>G | |
| ENST00000635911.1:n.2548A>G | ||
| ENST00000635984.1:c.706A>G | ENSP00000489921.1:p.Ile236Val | |
| ENST00000635996.1:c.1030A>G | ENSP00000490256.1:p.Ile344Val | |
| ENST00000636107.1:c.1030A>G | ENSP00000489680.1:p.Ile344Val | |
| ENST00000636311.1:n.924A>G | ||
| ENST00000636343.1:c.696A>G | ||
| ENST00000636379.1:c.742A>G | ENSP00000490622.1:p.Ile248Val | |
| ENST00000636398.1:c.730A>G | ENSP00000489654.1:n.730A>G | |
| ENST00000636489.1:c.973A>G | ENSP00000489998.1:p.Ile325Val | |
| ENST00000636616.1:n.646A>G | ||
| ENST00000636702.1:c.1000A>G | ENSP00000489623.1:p.Ile334Val | |
| ENST00000636954.1:c.973A>G | ENSP00000489966.1:p.Ile325Val | |
| ENST00000637089.1:c.1030A>G | ENSP00000489854.1:p.Ile344Val | |
| ENST00000637263.1:c.1030A>G | ENSP00000489700.1:p.Ile344Val | |
| ENST00000637340.1:n.2955A>G | ||
| ENST00000637353.1:c.1030A>G | ENSP00000490441.1:p.Ile344Val | |
| ENST00000637602.1:c.*731A>G | ENSP00000490074.1:n.*731A>G | |
| ENST00000637849.1:n.1094A>G | ||
| ENST00000637874.1:c.83-4325A>G | ENSP00000490348.1:n.83-4325A>G | |
| ENST00000637892.1:n.1234A>G | ||
| ENST00000371068.9:c.1030A>G | ENSP00000360107.4:p.Ile344Val | |
| ENST00000480623.5:c.*1450A>G | ENSP00000434498.1:n.*1450A>G | |
| ENST00000538167.2:c.973A>G | ENSP00000444521.1:p.Ile325Val | |
| NM_001172420.1:c.973A>G | NP_001165891.1:p.Ile325Val | |
| NM_018100.3:c.1030A>G | NP_060570.2:p.Ile344Val | |
| NR_033327.1:n.2502A>G | ||
| NM_018100.4:c.1030A>G MANE Select | NP_060570.2:p.Ile344Val | |
| NM_001172420.2:c.973A>G | NP_001165891.1:p.Ile325Val | |
| NR_033327.2:n.2356A>G |