Linked Data
ClinVar Variation Id:
226075
dbSNP Id:
rs779759347
ExAC:
1:76216167 G / C
gnomAD v2:
1-76216167-G-C
gnomAD v4:
1-75750482-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75750482G>C , CM000663.2:g.75750482G>C | GRCh38 |
| NC_000001.10:g.76216167G>C , CM000663.1:g.76216167G>C | GRCh37 |
| NC_000001.9:g.75988755G>C | NCBI36 |
| NG_007045.2:g.31125G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.881G>C MANE Select | ENSP00000359878.5:p.Arg294Thr | |
| ENST00000473018.3:n.3005G>C | ||
| ENST00000532207.6:n.1770G>C | ||
| ENST00000541113.6:c.849+923G>C | ENSP00000442324.2:n.849+923G>C | |
| ENST00000679509.1:n.1843G>C | ||
| ENST00000679530.1:c.*649G>C | ENSP00000506454.1:n.*649G>C | |
| ENST00000679615.1:n.2896G>C | ||
| ENST00000679687.1:c.443G>C | ENSP00000506598.1:p.Arg148Thr | |
| ENST00000679704.1:c.*647G>C | ENSP00000505117.1:n.*647G>C | |
| ENST00000679709.1:c.*844G>C | ENSP00000506623.1:n.*844G>C | |
| ENST00000679976.1:c.*465G>C | ENSP00000505565.1:n.*465G>C | |
| ENST00000680166.1:n.4170G>C | ||
| ENST00000680315.1:n.764G>C | ||
| ENST00000680517.1:c.*269G>C | ENSP00000505803.1:n.*269G>C | |
| ENST00000680582.1:n.1843G>C | ||
| ENST00000680613.1:c.*252G>C | ENSP00000506114.1:n.*252G>C | |
| ENST00000680662.1:c.*795G>C | ENSP00000505080.1:n.*795G>C | |
| ENST00000680691.1:c.*544G>C | ENSP00000506487.1:n.*544G>C | |
| ENST00000680694.1:c.*469G>C | ENSP00000505658.1:n.*469G>C | |
| ENST00000680743.1:c.*548G>C | ENSP00000505073.1:n.*548G>C | |
| ENST00000680749.1:c.*166G>C | ENSP00000505122.1:n.*166G>C | |
| ENST00000680798.1:c.*356G>C | ENSP00000505670.1:n.*356G>C | |
| ENST00000680805.1:c.740G>C | ENSP00000505447.1:p.Arg247Thr | |
| ENST00000680844.1:c.*665G>C | ENSP00000506541.1:n.*665G>C | |
| ENST00000680948.1:c.*748G>C | ENSP00000505441.1:n.*748G>C | |
| ENST00000680964.1:c.881G>C | ENSP00000505961.1:p.Arg294Thr | |
| ENST00000681037.1:c.*2365G>C | ENSP00000506025.1:n.*2365G>C | |
| ENST00000681063.1:c.*28G>C | ENSP00000506616.1:n.*28G>C | |
| ENST00000681209.1:c.*536G>C | ENSP00000505877.1:n.*536G>C | |
| ENST00000681278.1:n.1238G>C | ||
| ENST00000681289.1:n.4876G>C | ||
| ENST00000681361.1:c.*548G>C | ENSP00000506679.1:n.*548G>C | |
| ENST00000681430.1:c.881G>C | ENSP00000506301.1:p.Arg294Thr | |
| ENST00000681446.1:c.*463G>C | ENSP00000506244.1:n.*463G>C | |
| ENST00000681450.1:c.*552G>C | ENSP00000505660.1:n.*552G>C | |
| ENST00000681548.1:c.*467G>C | ENSP00000505275.1:n.*467G>C | |
| ENST00000681616.1:c.*540G>C | ENSP00000505111.1:n.*540G>C | |
| ENST00000681621.1:c.*465G>C | ENSP00000505770.1:n.*465G>C | |
| ENST00000681680.1:n.2976G>C | ||
| ENST00000681720.1:c.*336G>C | ENSP00000505438.1:n.*336G>C | |
| ENST00000681730.1:n.1103G>C | ||
| ENST00000681790.1:c.623G>C | ENSP00000505130.1:p.Arg208Thr | |
| ENST00000681837.1:n.1497G>C | ||
| ENST00000681913.1:n.3005G>C | ||
| ENST00000681916.1:c.*649G>C | ENSP00000506477.1:n.*649G>C | |
| ENST00000681930.1:n.3005G>C | ||
| ENST00000370834.9:c.980G>C | ENSP00000359871.5:p.Arg327Thr | |
| ENST00000370841.8:c.881G>C | ENSP00000359878.4:p.Arg294Thr | |
| ENST00000420607.6:c.893G>C | ENSP00000409612.2:p.Arg298Thr | |
| ENST00000481374.1:n.32G>C | ||
| ENST00000525808.5:c.*467G>C | ENSP00000434823.1:n.*467G>C | |
| ENST00000526129.5:c.*665G>C | ENSP00000434092.1:n.*665G>C | |
| ENST00000526196.5:c.*649G>C | ENSP00000431953.1:n.*649G>C | |
| ENST00000528016.1:c.95G>C | ENSP00000434284.1:p.Arg32Thr | |
| ENST00000529059.5:n.790G>C | ||
| ENST00000532207.5:n.611G>C | ||
| ENST00000534334.5:c.*465G>C | ENSP00000435584.1:n.*465G>C | |
| ENST00000541113.5:c.773G>C | ENSP00000442324.1:p.Arg258Thr | |
| NM_000016.5:c.881G>C | NP_000007.1:p.Arg294Thr | |
| NM_001127328.2:c.893G>C | NP_001120800.1:p.Arg298Thr | |
| NM_001286042.1:c.773G>C | NP_001272971.1:p.Arg258Thr | |
| NM_001286043.1:c.980G>C | NP_001272972.1:p.Arg327Thr | |
| NM_001286044.1:c.314G>C | NP_001272973.1:p.Arg105Thr | |
| NM_000016.6:c.881G>C MANE Select | NP_000007.1:p.Arg294Thr | |
| NM_001127328.3:c.893G>C | NP_001120800.1:p.Arg298Thr | |
| NM_001286042.2:c.773G>C | NP_001272971.1:p.Arg258Thr | |
| NM_001286043.2:c.980G>C | NP_001272972.1:p.Arg327Thr | |
| NM_001286044.2:c.314G>C | NP_001272973.1:p.Arg105Thr |