Linked Data
ClinVar Variation Id:
2189079
ClinVar RCV Id:
RCV002607087
MyVariant Identifiers:
chr1:g.76226989T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761304T>C , CM000663.2:g.75761304T>C | GRCh38 |
| NC_000001.10:g.76226989T>C , CM000663.1:g.76226989T>C | GRCh37 |
| NC_000001.9:g.75999577T>C | NCBI36 |
| NG_007045.2:g.41947T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1128T>C MANE Select | ENSP00000359878.5:p.Leu376= | |
| ENST00000473018.3:n.3252T>C | ||
| ENST00000532207.6:n.2139T>C | ||
| ENST00000541113.6:c.1032T>C | ENSP00000442324.2:p.Leu344= | |
| ENST00000679509.1:n.2090T>C | ||
| ENST00000679530.1:c.*896T>C | ENSP00000506454.1:n.*896T>C | |
| ENST00000679615.1:n.3143T>C | ||
| ENST00000679687.1:c.690T>C | ENSP00000506598.1:p.Leu230= | |
| ENST00000679704.1:c.*894T>C | ENSP00000505117.1:n.*894T>C | |
| ENST00000679709.1:c.*1091T>C | ENSP00000506623.1:n.*1091T>C | |
| ENST00000679976.1:c.*712T>C | ENSP00000505565.1:n.*712T>C | |
| ENST00000680166.1:n.4417T>C | ||
| ENST00000680315.1:n.1011T>C | ||
| ENST00000680517.1:c.*516T>C | ENSP00000505803.1:n.*516T>C | |
| ENST00000680582.1:n.2090T>C | ||
| ENST00000680613.1:c.*621T>C | ENSP00000506114.1:n.*621T>C | |
| ENST00000680662.1:c.*1042T>C | ENSP00000505080.1:n.*1042T>C | |
| ENST00000680691.1:c.*791T>C | ENSP00000506487.1:n.*791T>C | |
| ENST00000680694.1:c.*716T>C | ENSP00000505658.1:n.*716T>C | |
| ENST00000680743.1:c.*917T>C | ENSP00000505073.1:n.*917T>C | |
| ENST00000680749.1:c.*413T>C | ENSP00000505122.1:n.*413T>C | |
| ENST00000680798.1:c.*603T>C | ENSP00000505670.1:n.*603T>C | |
| ENST00000680805.1:c.987T>C | ENSP00000505447.1:p.Leu329= | |
| ENST00000680844.1:c.*912T>C | ENSP00000506541.1:n.*912T>C | |
| ENST00000680948.1:c.*995T>C | ENSP00000505441.1:n.*995T>C | |
| ENST00000680964.1:c.*221T>C | ENSP00000505961.1:n.*221T>C | |
| ENST00000681037.1:c.*2612T>C | ENSP00000506025.1:n.*2612T>C | |
| ENST00000681063.1:c.*397T>C | ENSP00000506616.1:n.*397T>C | |
| ENST00000681209.1:c.*783T>C | ENSP00000505877.1:n.*783T>C | |
| ENST00000681278.1:n.1830T>C | ||
| ENST00000681289.1:n.5123T>C | ||
| ENST00000681361.1:c.*795T>C | ENSP00000506679.1:n.*795T>C | |
| ENST00000681430.1:c.*221T>C | ENSP00000506301.1:n.*221T>C | |
| ENST00000681446.1:c.*832T>C | ENSP00000506244.1:n.*832T>C | |
| ENST00000681450.1:c.*799T>C | ENSP00000505660.1:n.*799T>C | |
| ENST00000681548.1:c.*714T>C | ENSP00000505275.1:n.*714T>C | |
| ENST00000681616.1:c.*787T>C | ENSP00000505111.1:n.*787T>C | |
| ENST00000681621.1:c.*712T>C | ENSP00000505770.1:n.*712T>C | |
| ENST00000681680.1:n.3223T>C | ||
| ENST00000681720.1:c.*583T>C | ENSP00000505438.1:n.*583T>C | |
| ENST00000681730.1:n.1350T>C | ||
| ENST00000681790.1:c.870T>C | ENSP00000505130.1:p.Leu290= | |
| ENST00000681837.1:n.1744T>C | ||
| ENST00000681913.1:n.3374T>C | ||
| ENST00000681916.1:c.*896T>C | ENSP00000506477.1:n.*896T>C | |
| ENST00000681930.1:n.3252T>C | ||
| ENST00000370834.9:c.1227T>C | ENSP00000359871.5:p.Leu409= | |
| ENST00000370841.8:c.1128T>C | ENSP00000359878.4:p.Leu376= | |
| ENST00000420607.6:c.1140T>C | ENSP00000409612.2:p.Leu380= | |
| ENST00000481374.1:n.401T>C | ||
| ENST00000525808.5:c.*714T>C | ENSP00000434823.1:n.*714T>C | |
| ENST00000526129.5:c.*912T>C | ENSP00000434092.1:n.*912T>C | |
| ENST00000526196.5:c.*896T>C | ENSP00000431953.1:n.*896T>C | |
| ENST00000528016.1:c.160-7873T>C | ENSP00000434284.1:n.160-7873T>C | |
| ENST00000529059.5:n.1037T>C | ||
| ENST00000541113.5:c.1020T>C | ENSP00000442324.1:p.Leu340= | |
| NM_000016.5:c.1128T>C | NP_000007.1:p.Leu376= | |
| NM_001127328.2:c.1140T>C | NP_001120800.1:p.Leu380= | |
| NM_001286042.1:c.1020T>C | NP_001272971.1:p.Leu340= | |
| NM_001286043.1:c.1227T>C | NP_001272972.1:p.Leu409= | |
| NM_001286044.1:c.561T>C | NP_001272973.1:p.Leu187= | |
| NM_000016.6:c.1128T>C MANE Select | NP_000007.1:p.Leu376= | |
| NM_001127328.3:c.1140T>C | NP_001120800.1:p.Leu380= | |
| NM_001286042.2:c.1020T>C | NP_001272971.1:p.Leu340= | |
| NM_001286043.2:c.1227T>C | NP_001272972.1:p.Leu409= | |
| NM_001286044.2:c.561T>C | NP_001272973.1:p.Leu187= |