Linked Data
dbSNP Id:
rs1392246366
gnomAD v2:
1-76228322-A-G
gnomAD v3:
1-75762637-A-G
gnomAD v4:
1-75762637-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75762637A>G , CM000663.2:g.75762637A>G | GRCh38 |
| NC_000001.10:g.76228322A>G , CM000663.1:g.76228322A>G | GRCh37 |
| NC_000001.9:g.76000910A>G | NCBI36 |
| NG_007045.2:g.43280A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1195-55A>G MANE Select | ENSP00000359878.5:n.1195-55A>G | |
| ENST00000473018.3:n.3319-55A>G | ||
| ENST00000532207.6:n.3472A>G | ||
| ENST00000541113.6:c.1099-55A>G | ENSP00000442324.2:n.1099-55A>G | |
| ENST00000679509.1:n.3423A>G | ||
| ENST00000679530.1:c.*963-55A>G | ENSP00000506454.1:n.*963-55A>G | |
| ENST00000679615.1:n.4476A>G | ||
| ENST00000679687.1:c.757-55A>G | ENSP00000506598.1:n.757-55A>G | |
| ENST00000679704.1:c.*961-55A>G | ENSP00000505117.1:n.*961-55A>G | |
| ENST00000679709.1:c.*1158-55A>G | ENSP00000506623.1:n.*1158-55A>G | |
| ENST00000679976.1:c.*779-55A>G | ENSP00000505565.1:n.*779-55A>G | |
| ENST00000680166.1:n.4484-55A>G | ||
| ENST00000680517.1:c.*1849A>G | ENSP00000505803.1:n.*1849A>G | |
| ENST00000680582.1:n.2157-55A>G | ||
| ENST00000680613.1:c.*688-55A>G | ENSP00000506114.1:n.*688-55A>G | |
| ENST00000680662.1:c.*1109-55A>G | ENSP00000505080.1:n.*1109-55A>G | |
| ENST00000680691.1:c.*858-55A>G | ENSP00000506487.1:n.*858-55A>G | |
| ENST00000680694.1:c.*783-55A>G | ENSP00000505658.1:n.*783-55A>G | |
| ENST00000680743.1:c.*984-55A>G | ENSP00000505073.1:n.*984-55A>G | |
| ENST00000680749.1:c.*480-55A>G | ENSP00000505122.1:n.*480-55A>G | |
| ENST00000680798.1:c.*1936A>G | ENSP00000505670.1:n.*1936A>G | |
| ENST00000680805.1:c.1054-55A>G | ENSP00000505447.1:n.1054-55A>G | |
| ENST00000680844.1:c.*2245A>G | ENSP00000506541.1:n.*2245A>G | |
| ENST00000680948.1:c.*1062-55A>G | ENSP00000505441.1:n.*1062-55A>G | |
| ENST00000680964.1:c.*1554A>G | ENSP00000505961.1:n.*1554A>G | |
| ENST00000681037.1:c.*2679-55A>G | ENSP00000506025.1:n.*2679-55A>G | |
| ENST00000681063.1:c.*464-55A>G | ENSP00000506616.1:n.*464-55A>G | |
| ENST00000681209.1:c.*850-55A>G | ENSP00000505877.1:n.*850-55A>G | |
| ENST00000681278.1:n.1897-55A>G | ||
| ENST00000681289.1:n.5190-55A>G | ||
| ENST00000681361.1:c.*2128A>G | ENSP00000506679.1:n.*2128A>G | |
| ENST00000681430.1:c.*288-55A>G | ENSP00000506301.1:n.*288-55A>G | |
| ENST00000681446.1:c.*2165A>G | ENSP00000506244.1:n.*2165A>G | |
| ENST00000681450.1:c.*866-55A>G | ENSP00000505660.1:n.*866-55A>G | |
| ENST00000681548.1:c.*2047A>G | ENSP00000505275.1:n.*2047A>G | |
| ENST00000681616.1:c.*2120A>G | ENSP00000505111.1:n.*2120A>G | |
| ENST00000681621.1:c.*2045A>G | ENSP00000505770.1:n.*2045A>G | |
| ENST00000681680.1:n.4556A>G | ||
| ENST00000681720.1:c.*650-55A>G | ENSP00000505438.1:n.*650-55A>G | |
| ENST00000681730.1:n.1417-55A>G | ||
| ENST00000681790.1:c.937-55A>G | ENSP00000505130.1:n.937-55A>G | |
| ENST00000681837.1:n.3077A>G | ||
| ENST00000681913.1:n.3441-55A>G | ||
| ENST00000681916.1:c.*963-55A>G | ENSP00000506477.1:n.*963-55A>G | |
| ENST00000681930.1:n.4585A>G | ||
| ENST00000370834.9:c.1294-55A>G | ENSP00000359871.5:n.1294-55A>G | |
| ENST00000370841.8:c.1195-55A>G | ENSP00000359878.4:n.1195-55A>G | |
| ENST00000420607.6:c.1207-55A>G | ENSP00000409612.2:n.1207-55A>G | |
| ENST00000481374.1:n.468-656A>G | ||
| ENST00000525808.5:c.*781-55A>G | ENSP00000434823.1:n.*781-55A>G | |
| ENST00000526196.5:c.*963-55A>G | ENSP00000431953.1:n.*963-55A>G | |
| ENST00000528016.1:c.160-6540A>G | ENSP00000434284.1:n.160-6540A>G | |
| ENST00000529059.5:n.1104-55A>G | ||
| ENST00000541113.5:c.1087-55A>G | ENSP00000442324.1:n.1087-55A>G | |
| NM_000016.5:c.1195-55A>G | NP_000007.1:n.1195-55A>G | |
| NM_001127328.2:c.1207-55A>G | NP_001120800.1:n.1207-55A>G | |
| NM_001286042.1:c.1087-55A>G | NP_001272971.1:n.1087-55A>G | |
| NM_001286043.1:c.1294-55A>G | NP_001272972.1:n.1294-55A>G | |
| NM_001286044.1:c.628-55A>G | NP_001272973.1:n.628-55A>G | |
| NM_000016.6:c.1195-55A>G MANE Select | NP_000007.1:n.1195-55A>G | |
| NM_001127328.3:c.1207-55A>G | NP_001120800.1:n.1207-55A>G | |
| NM_001286042.2:c.1087-55A>G | NP_001272971.1:n.1087-55A>G | |
| NM_001286043.2:c.1294-55A>G | NP_001272972.1:n.1294-55A>G | |
| NM_001286044.2:c.628-55A>G | NP_001272973.1:n.628-55A>G |