Linked Data
dbSNP Id:
rs1428129658
gnomAD v2:
1-76227032-A-G
gnomAD v3:
1-75761347-A-G
gnomAD v4:
1-75761347-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761347A>G , CM000663.2:g.75761347A>G | GRCh38 |
| NC_000001.10:g.76227032A>G , CM000663.1:g.76227032A>G | GRCh37 |
| NC_000001.9:g.75999620A>G | NCBI36 |
| NG_007045.2:g.41990A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.1171A>G MANE Select | ENSP00000359878.5:p.Met391Val | |
| ENST00000473018.3:n.3295A>G | ||
| ENST00000532207.6:n.2182A>G | ||
| ENST00000541113.6:c.1075A>G | ENSP00000442324.2:p.Met359Val | |
| ENST00000679509.1:n.2133A>G | ||
| ENST00000679530.1:c.*939A>G | ENSP00000506454.1:n.*939A>G | |
| ENST00000679615.1:n.3186A>G | ||
| ENST00000679687.1:c.733A>G | ENSP00000506598.1:p.Met245Val | |
| ENST00000679704.1:c.*937A>G | ENSP00000505117.1:n.*937A>G | |
| ENST00000679709.1:c.*1134A>G | ENSP00000506623.1:n.*1134A>G | |
| ENST00000679976.1:c.*755A>G | ENSP00000505565.1:n.*755A>G | |
| ENST00000680166.1:n.4460A>G | ||
| ENST00000680315.1:n.1054A>G | ||
| ENST00000680517.1:c.*559A>G | ENSP00000505803.1:n.*559A>G | |
| ENST00000680582.1:n.2133A>G | ||
| ENST00000680613.1:c.*664A>G | ENSP00000506114.1:n.*664A>G | |
| ENST00000680662.1:c.*1085A>G | ENSP00000505080.1:n.*1085A>G | |
| ENST00000680691.1:c.*834A>G | ENSP00000506487.1:n.*834A>G | |
| ENST00000680694.1:c.*759A>G | ENSP00000505658.1:n.*759A>G | |
| ENST00000680743.1:c.*960A>G | ENSP00000505073.1:n.*960A>G | |
| ENST00000680749.1:c.*456A>G | ENSP00000505122.1:n.*456A>G | |
| ENST00000680798.1:c.*646A>G | ENSP00000505670.1:n.*646A>G | |
| ENST00000680805.1:c.1030A>G | ENSP00000505447.1:p.Met344Val | |
| ENST00000680844.1:c.*955A>G | ENSP00000506541.1:n.*955A>G | |
| ENST00000680948.1:c.*1038A>G | ENSP00000505441.1:n.*1038A>G | |
| ENST00000680964.1:c.*264A>G | ENSP00000505961.1:n.*264A>G | |
| ENST00000681037.1:c.*2655A>G | ENSP00000506025.1:n.*2655A>G | |
| ENST00000681063.1:c.*440A>G | ENSP00000506616.1:n.*440A>G | |
| ENST00000681209.1:c.*826A>G | ENSP00000505877.1:n.*826A>G | |
| ENST00000681278.1:n.1873A>G | ||
| ENST00000681289.1:n.5166A>G | ||
| ENST00000681361.1:c.*838A>G | ENSP00000506679.1:n.*838A>G | |
| ENST00000681430.1:c.*264A>G | ENSP00000506301.1:n.*264A>G | |
| ENST00000681446.1:c.*875A>G | ENSP00000506244.1:n.*875A>G | |
| ENST00000681450.1:c.*842A>G | ENSP00000505660.1:n.*842A>G | |
| ENST00000681548.1:c.*757A>G | ENSP00000505275.1:n.*757A>G | |
| ENST00000681616.1:c.*830A>G | ENSP00000505111.1:n.*830A>G | |
| ENST00000681621.1:c.*755A>G | ENSP00000505770.1:n.*755A>G | |
| ENST00000681680.1:n.3266A>G | ||
| ENST00000681720.1:c.*626A>G | ENSP00000505438.1:n.*626A>G | |
| ENST00000681730.1:n.1393A>G | ||
| ENST00000681790.1:c.913A>G | ENSP00000505130.1:p.Met305Val | |
| ENST00000681837.1:n.1787A>G | ||
| ENST00000681913.1:n.3417A>G | ||
| ENST00000681916.1:c.*939A>G | ENSP00000506477.1:n.*939A>G | |
| ENST00000681930.1:n.3295A>G | ||
| ENST00000370834.9:c.1270A>G | ENSP00000359871.5:p.Met424Val | |
| ENST00000370841.8:c.1171A>G | ENSP00000359878.4:p.Met391Val | |
| ENST00000420607.6:c.1183A>G | ENSP00000409612.2:p.Met395Val | |
| ENST00000481374.1:n.444A>G | ||
| ENST00000525808.5:c.*757A>G | ENSP00000434823.1:n.*757A>G | |
| ENST00000526129.5:c.*955A>G | ENSP00000434092.1:n.*955A>G | |
| ENST00000526196.5:c.*939A>G | ENSP00000431953.1:n.*939A>G | |
| ENST00000528016.1:c.160-7830A>G | ENSP00000434284.1:n.160-7830A>G | |
| ENST00000529059.5:n.1080A>G | ||
| ENST00000541113.5:c.1063A>G | ENSP00000442324.1:p.Met355Val | |
| NM_000016.5:c.1171A>G | NP_000007.1:p.Met391Val | |
| NM_001127328.2:c.1183A>G | NP_001120800.1:p.Met395Val | |
| NM_001286042.1:c.1063A>G | NP_001272971.1:p.Met355Val | |
| NM_001286043.1:c.1270A>G | NP_001272972.1:p.Met424Val | |
| NM_001286044.1:c.604A>G | NP_001272973.1:p.Met202Val | |
| NM_000016.6:c.1171A>G MANE Select | NP_000007.1:p.Met391Val | |
| NM_001127328.3:c.1183A>G | NP_001120800.1:p.Met395Val | |
| NM_001286042.2:c.1063A>G | NP_001272971.1:p.Met355Val | |
| NM_001286043.2:c.1270A>G | NP_001272972.1:p.Met424Val | |
| NM_001286044.2:c.604A>G | NP_001272973.1:p.Met202Val |