Linked Data
dbSNP Id:
rs747593459
ExAC:
1:76216212 T / G
gnomAD v2:
1-76216212-T-G
gnomAD v4:
1-75750527-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75750527T>G , CM000663.2:g.75750527T>G | GRCh38 |
| NC_000001.10:g.76216212T>G , CM000663.1:g.76216212T>G | GRCh37 |
| NC_000001.9:g.75988800T>G | NCBI36 |
| NG_007045.2:g.31170T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.926T>G MANE Select | ENSP00000359878.5:p.Phe309Cys | |
| ENST00000473018.3:n.3050T>G | ||
| ENST00000532207.6:n.1815T>G | ||
| ENST00000541113.6:c.849+968T>G | ENSP00000442324.2:n.849+968T>G | |
| ENST00000679509.1:n.1888T>G | ||
| ENST00000679530.1:c.*694T>G | ENSP00000506454.1:n.*694T>G | |
| ENST00000679615.1:n.2941T>G | ||
| ENST00000679687.1:c.488T>G | ENSP00000506598.1:p.Phe163Cys | |
| ENST00000679704.1:c.*692T>G | ENSP00000505117.1:n.*692T>G | |
| ENST00000679709.1:c.*889T>G | ENSP00000506623.1:n.*889T>G | |
| ENST00000679976.1:c.*510T>G | ENSP00000505565.1:n.*510T>G | |
| ENST00000680166.1:n.4215T>G | ||
| ENST00000680315.1:n.809T>G | ||
| ENST00000680517.1:c.*314T>G | ENSP00000505803.1:n.*314T>G | |
| ENST00000680582.1:n.1888T>G | ||
| ENST00000680613.1:c.*297T>G | ENSP00000506114.1:n.*297T>G | |
| ENST00000680662.1:c.*840T>G | ENSP00000505080.1:n.*840T>G | |
| ENST00000680691.1:c.*589T>G | ENSP00000506487.1:n.*589T>G | |
| ENST00000680694.1:c.*514T>G | ENSP00000505658.1:n.*514T>G | |
| ENST00000680743.1:c.*593T>G | ENSP00000505073.1:n.*593T>G | |
| ENST00000680749.1:c.*211T>G | ENSP00000505122.1:n.*211T>G | |
| ENST00000680798.1:c.*401T>G | ENSP00000505670.1:n.*401T>G | |
| ENST00000680805.1:c.785T>G | ENSP00000505447.1:p.Phe262Cys | |
| ENST00000680844.1:c.*710T>G | ENSP00000506541.1:n.*710T>G | |
| ENST00000680948.1:c.*793T>G | ENSP00000505441.1:n.*793T>G | |
| ENST00000680964.1:c.926T>G | ENSP00000505961.1:p.Phe309Cys | |
| ENST00000681037.1:c.*2410T>G | ENSP00000506025.1:n.*2410T>G | |
| ENST00000681063.1:c.*73T>G | ENSP00000506616.1:n.*73T>G | |
| ENST00000681209.1:c.*581T>G | ENSP00000505877.1:n.*581T>G | |
| ENST00000681278.1:n.1283T>G | ||
| ENST00000681289.1:n.4921T>G | ||
| ENST00000681361.1:c.*593T>G | ENSP00000506679.1:n.*593T>G | |
| ENST00000681430.1:c.926T>G | ENSP00000506301.1:p.Phe309Cys | |
| ENST00000681446.1:c.*508T>G | ENSP00000506244.1:n.*508T>G | |
| ENST00000681450.1:c.*597T>G | ENSP00000505660.1:n.*597T>G | |
| ENST00000681548.1:c.*512T>G | ENSP00000505275.1:n.*512T>G | |
| ENST00000681616.1:c.*585T>G | ENSP00000505111.1:n.*585T>G | |
| ENST00000681621.1:c.*510T>G | ENSP00000505770.1:n.*510T>G | |
| ENST00000681680.1:n.3021T>G | ||
| ENST00000681720.1:c.*381T>G | ENSP00000505438.1:n.*381T>G | |
| ENST00000681730.1:n.1148T>G | ||
| ENST00000681790.1:c.668T>G | ENSP00000505130.1:p.Phe223Cys | |
| ENST00000681837.1:n.1542T>G | ||
| ENST00000681913.1:n.3050T>G | ||
| ENST00000681916.1:c.*694T>G | ENSP00000506477.1:n.*694T>G | |
| ENST00000681930.1:n.3050T>G | ||
| ENST00000370834.9:c.1025T>G | ENSP00000359871.5:p.Phe342Cys | |
| ENST00000370841.8:c.926T>G | ENSP00000359878.4:p.Phe309Cys | |
| ENST00000420607.6:c.938T>G | ENSP00000409612.2:p.Phe313Cys | |
| ENST00000481374.1:n.77T>G | ||
| ENST00000525808.5:c.*512T>G | ENSP00000434823.1:n.*512T>G | |
| ENST00000526129.5:c.*710T>G | ENSP00000434092.1:n.*710T>G | |
| ENST00000526196.5:c.*694T>G | ENSP00000431953.1:n.*694T>G | |
| ENST00000528016.1:c.140T>G | ENSP00000434284.1:p.Phe47Cys | |
| ENST00000529059.5:n.835T>G | ||
| ENST00000532207.5:n.656T>G | ||
| ENST00000534334.5:c.*510T>G | ENSP00000435584.1:n.*510T>G | |
| ENST00000541113.5:c.818T>G | ENSP00000442324.1:p.Phe273Cys | |
| NM_000016.5:c.926T>G | NP_000007.1:p.Phe309Cys | |
| NM_001127328.2:c.938T>G | NP_001120800.1:p.Phe313Cys | |
| NM_001286042.1:c.818T>G | NP_001272971.1:p.Phe273Cys | |
| NM_001286043.1:c.1025T>G | NP_001272972.1:p.Phe342Cys | |
| NM_001286044.1:c.359T>G | NP_001272973.1:p.Phe120Cys | |
| NM_000016.6:c.926T>G MANE Select | NP_000007.1:p.Phe309Cys | |
| NM_001127328.3:c.938T>G | NP_001120800.1:p.Phe313Cys | |
| NM_001286042.2:c.818T>G | NP_001272971.1:p.Phe273Cys | |
| NM_001286043.2:c.1025T>G | NP_001272972.1:p.Phe342Cys | |
| NM_001286044.2:c.359T>G | NP_001272973.1:p.Phe120Cys |