Linked Data
ClinVar Variation Id:
1148667
ClinVar RCV Id:
RCV001488627
dbSNP Id:
rs2100420216
MyVariant Identifiers:
chr1:g.76216141T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75750456T>C , CM000663.2:g.75750456T>C | GRCh38 |
| NC_000001.10:g.76216141T>C , CM000663.1:g.76216141T>C | GRCh37 |
| NC_000001.9:g.75988729T>C | NCBI36 |
| NG_007045.2:g.31099T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.855T>C MANE Select | ENSP00000359878.5:p.Ala285= | |
| ENST00000473018.3:n.2979T>C | ||
| ENST00000532207.6:n.1744T>C | ||
| ENST00000541113.6:c.849+897T>C | ENSP00000442324.2:n.849+897T>C | |
| ENST00000679509.1:n.1817T>C | ||
| ENST00000679530.1:c.*623T>C | ENSP00000506454.1:n.*623T>C | |
| ENST00000679615.1:n.2870T>C | ||
| ENST00000679687.1:c.417T>C | ENSP00000506598.1:p.Ala139= | |
| ENST00000679704.1:c.*621T>C | ENSP00000505117.1:n.*621T>C | |
| ENST00000679709.1:c.*818T>C | ENSP00000506623.1:n.*818T>C | |
| ENST00000679976.1:c.*439T>C | ENSP00000505565.1:n.*439T>C | |
| ENST00000680166.1:n.4144T>C | ||
| ENST00000680315.1:n.738T>C | ||
| ENST00000680517.1:c.*243T>C | ENSP00000505803.1:n.*243T>C | |
| ENST00000680582.1:n.1817T>C | ||
| ENST00000680613.1:c.*226T>C | ENSP00000506114.1:n.*226T>C | |
| ENST00000680662.1:c.*769T>C | ENSP00000505080.1:n.*769T>C | |
| ENST00000680691.1:c.*518T>C | ENSP00000506487.1:n.*518T>C | |
| ENST00000680694.1:c.*443T>C | ENSP00000505658.1:n.*443T>C | |
| ENST00000680743.1:c.*522T>C | ENSP00000505073.1:n.*522T>C | |
| ENST00000680749.1:c.*140T>C | ENSP00000505122.1:n.*140T>C | |
| ENST00000680798.1:c.*330T>C | ENSP00000505670.1:n.*330T>C | |
| ENST00000680805.1:c.714T>C | ENSP00000505447.1:p.Ala238= | |
| ENST00000680844.1:c.*639T>C | ENSP00000506541.1:n.*639T>C | |
| ENST00000680948.1:c.*722T>C | ENSP00000505441.1:n.*722T>C | |
| ENST00000680964.1:c.855T>C | ENSP00000505961.1:p.Ala285= | |
| ENST00000681037.1:c.*2339T>C | ENSP00000506025.1:n.*2339T>C | |
| ENST00000681063.1:c.*2T>C | ENSP00000506616.1:n.*2T>C | |
| ENST00000681209.1:c.*510T>C | ENSP00000505877.1:n.*510T>C | |
| ENST00000681278.1:n.1212T>C | ||
| ENST00000681289.1:n.4850T>C | ||
| ENST00000681361.1:c.*522T>C | ENSP00000506679.1:n.*522T>C | |
| ENST00000681430.1:c.855T>C | ENSP00000506301.1:p.Ala285= | |
| ENST00000681446.1:c.*437T>C | ENSP00000506244.1:n.*437T>C | |
| ENST00000681450.1:c.*526T>C | ENSP00000505660.1:n.*526T>C | |
| ENST00000681548.1:c.*441T>C | ENSP00000505275.1:n.*441T>C | |
| ENST00000681616.1:c.*514T>C | ENSP00000505111.1:n.*514T>C | |
| ENST00000681621.1:c.*439T>C | ENSP00000505770.1:n.*439T>C | |
| ENST00000681680.1:n.2950T>C | ||
| ENST00000681720.1:c.*310T>C | ENSP00000505438.1:n.*310T>C | |
| ENST00000681730.1:n.1077T>C | ||
| ENST00000681790.1:c.597T>C | ENSP00000505130.1:p.Ala199= | |
| ENST00000681837.1:n.1471T>C | ||
| ENST00000681913.1:n.2979T>C | ||
| ENST00000681916.1:c.*623T>C | ENSP00000506477.1:n.*623T>C | |
| ENST00000681930.1:n.2979T>C | ||
| ENST00000370834.9:c.954T>C | ENSP00000359871.5:p.Ala318= | |
| ENST00000370841.8:c.855T>C | ENSP00000359878.4:p.Ala285= | |
| ENST00000420607.6:c.867T>C | ENSP00000409612.2:p.Ala289= | |
| ENST00000481374.1:n.6T>C | ||
| ENST00000525808.5:c.*441T>C | ENSP00000434823.1:n.*441T>C | |
| ENST00000526129.5:c.*639T>C | ENSP00000434092.1:n.*639T>C | |
| ENST00000526196.5:c.*623T>C | ENSP00000431953.1:n.*623T>C | |
| ENST00000528016.1:c.69T>C | ENSP00000434284.1:p.Ala23= | |
| ENST00000529059.5:n.764T>C | ||
| ENST00000532207.5:n.585T>C | ||
| ENST00000534334.5:c.*439T>C | ENSP00000435584.1:n.*439T>C | |
| ENST00000541113.5:c.747T>C | ENSP00000442324.1:p.Ala249= | |
| NM_000016.5:c.855T>C | NP_000007.1:p.Ala285= | |
| NM_001127328.2:c.867T>C | NP_001120800.1:p.Ala289= | |
| NM_001286042.1:c.747T>C | NP_001272971.1:p.Ala249= | |
| NM_001286043.1:c.954T>C | NP_001272972.1:p.Ala318= | |
| NM_001286044.1:c.288T>C | NP_001272973.1:p.Ala96= | |
| NM_000016.6:c.855T>C MANE Select | NP_000007.1:p.Ala285= | |
| NM_001127328.3:c.867T>C | NP_001120800.1:p.Ala289= | |
| NM_001286042.2:c.747T>C | NP_001272971.1:p.Ala249= | |
| NM_001286043.2:c.954T>C | NP_001272972.1:p.Ala318= | |
| NM_001286044.2:c.288T>C | NP_001272973.1:p.Ala96= |