Linked Data
dbSNP Id:
rs770663738
ExAC:
1:76227029 C / G
gnomAD v2:
1-76227029-C-G
gnomAD v4:
1-75761344-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761344C>G , CM000663.2:g.75761344C>G | GRCh38 |
| NC_000001.10:g.76227029C>G , CM000663.1:g.76227029C>G | GRCh37 |
| NC_000001.9:g.75999617C>G | NCBI36 |
| NG_007045.2:g.41987C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.1168C>G MANE Select | ENSP00000359878.5:p.Leu390Val | |
| ENST00000473018.3:n.3292C>G | ||
| ENST00000532207.6:n.2179C>G | ||
| ENST00000541113.6:c.1072C>G | ENSP00000442324.2:p.Leu358Val | |
| ENST00000679509.1:n.2130C>G | ||
| ENST00000679530.1:c.*936C>G | ENSP00000506454.1:n.*936C>G | |
| ENST00000679615.1:n.3183C>G | ||
| ENST00000679687.1:c.730C>G | ENSP00000506598.1:p.Leu244Val | |
| ENST00000679704.1:c.*934C>G | ENSP00000505117.1:n.*934C>G | |
| ENST00000679709.1:c.*1131C>G | ENSP00000506623.1:n.*1131C>G | |
| ENST00000679976.1:c.*752C>G | ENSP00000505565.1:n.*752C>G | |
| ENST00000680166.1:n.4457C>G | ||
| ENST00000680315.1:n.1051C>G | ||
| ENST00000680517.1:c.*556C>G | ENSP00000505803.1:n.*556C>G | |
| ENST00000680582.1:n.2130C>G | ||
| ENST00000680613.1:c.*661C>G | ENSP00000506114.1:n.*661C>G | |
| ENST00000680662.1:c.*1082C>G | ENSP00000505080.1:n.*1082C>G | |
| ENST00000680691.1:c.*831C>G | ENSP00000506487.1:n.*831C>G | |
| ENST00000680694.1:c.*756C>G | ENSP00000505658.1:n.*756C>G | |
| ENST00000680743.1:c.*957C>G | ENSP00000505073.1:n.*957C>G | |
| ENST00000680749.1:c.*453C>G | ENSP00000505122.1:n.*453C>G | |
| ENST00000680798.1:c.*643C>G | ENSP00000505670.1:n.*643C>G | |
| ENST00000680805.1:c.1027C>G | ENSP00000505447.1:p.Leu343Val | |
| ENST00000680844.1:c.*952C>G | ENSP00000506541.1:n.*952C>G | |
| ENST00000680948.1:c.*1035C>G | ENSP00000505441.1:n.*1035C>G | |
| ENST00000680964.1:c.*261C>G | ENSP00000505961.1:n.*261C>G | |
| ENST00000681037.1:c.*2652C>G | ENSP00000506025.1:n.*2652C>G | |
| ENST00000681063.1:c.*437C>G | ENSP00000506616.1:n.*437C>G | |
| ENST00000681209.1:c.*823C>G | ENSP00000505877.1:n.*823C>G | |
| ENST00000681278.1:n.1870C>G | ||
| ENST00000681289.1:n.5163C>G | ||
| ENST00000681361.1:c.*835C>G | ENSP00000506679.1:n.*835C>G | |
| ENST00000681430.1:c.*261C>G | ENSP00000506301.1:n.*261C>G | |
| ENST00000681446.1:c.*872C>G | ENSP00000506244.1:n.*872C>G | |
| ENST00000681450.1:c.*839C>G | ENSP00000505660.1:n.*839C>G | |
| ENST00000681548.1:c.*754C>G | ENSP00000505275.1:n.*754C>G | |
| ENST00000681616.1:c.*827C>G | ENSP00000505111.1:n.*827C>G | |
| ENST00000681621.1:c.*752C>G | ENSP00000505770.1:n.*752C>G | |
| ENST00000681680.1:n.3263C>G | ||
| ENST00000681720.1:c.*623C>G | ENSP00000505438.1:n.*623C>G | |
| ENST00000681730.1:n.1390C>G | ||
| ENST00000681790.1:c.910C>G | ENSP00000505130.1:p.Leu304Val | |
| ENST00000681837.1:n.1784C>G | ||
| ENST00000681913.1:n.3414C>G | ||
| ENST00000681916.1:c.*936C>G | ENSP00000506477.1:n.*936C>G | |
| ENST00000681930.1:n.3292C>G | ||
| ENST00000370834.9:c.1267C>G | ENSP00000359871.5:p.Leu423Val | |
| ENST00000370841.8:c.1168C>G | ENSP00000359878.4:p.Leu390Val | |
| ENST00000420607.6:c.1180C>G | ENSP00000409612.2:p.Leu394Val | |
| ENST00000481374.1:n.441C>G | ||
| ENST00000525808.5:c.*754C>G | ENSP00000434823.1:n.*754C>G | |
| ENST00000526129.5:c.*952C>G | ENSP00000434092.1:n.*952C>G | |
| ENST00000526196.5:c.*936C>G | ENSP00000431953.1:n.*936C>G | |
| ENST00000528016.1:c.160-7833C>G | ENSP00000434284.1:n.160-7833C>G | |
| ENST00000529059.5:n.1077C>G | ||
| ENST00000541113.5:c.1060C>G | ENSP00000442324.1:p.Leu354Val | |
| NM_000016.5:c.1168C>G | NP_000007.1:p.Leu390Val | |
| NM_001127328.2:c.1180C>G | NP_001120800.1:p.Leu394Val | |
| NM_001286042.1:c.1060C>G | NP_001272971.1:p.Leu354Val | |
| NM_001286043.1:c.1267C>G | NP_001272972.1:p.Leu423Val | |
| NM_001286044.1:c.601C>G | NP_001272973.1:p.Leu201Val | |
| NM_000016.6:c.1168C>G MANE Select | NP_000007.1:p.Leu390Val | |
| NM_001127328.3:c.1180C>G | NP_001120800.1:p.Leu394Val | |
| NM_001286042.2:c.1060C>G | NP_001272971.1:p.Leu354Val | |
| NM_001286043.2:c.1267C>G | NP_001272972.1:p.Leu423Val | |
| NM_001286044.2:c.601C>G | NP_001272973.1:p.Leu201Val |