Linked Data
dbSNP Id:
rs749853092
ExAC:
1:76215248 A / G
gnomAD v2:
1-76215248-A-G
gnomAD v3:
1-75749563-A-G
gnomAD v4:
1-75749563-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749563A>G , CM000663.2:g.75749563A>G | GRCh38 |
| NC_000001.10:g.76215248A>G , CM000663.1:g.76215248A>G | GRCh37 |
| NC_000001.9:g.75987836A>G | NCBI36 |
| NG_007045.2:g.30206A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.849+4A>G MANE Select | ENSP00000359878.5:n.849+4A>G | |
| ENST00000473018.3:n.2973+4A>G | ||
| ENST00000532207.6:n.1738+4A>G | ||
| ENST00000541113.6:c.849+4A>G | ENSP00000442324.2:n.849+4A>G | |
| ENST00000679509.1:n.1811+4A>G | ||
| ENST00000679530.1:c.*617+4A>G | ENSP00000506454.1:n.*617+4A>G | |
| ENST00000679615.1:n.2864+4A>G | ||
| ENST00000679687.1:c.411+4A>G | ENSP00000506598.1:n.411+4A>G | |
| ENST00000679704.1:c.*615+4A>G | ENSP00000505117.1:n.*615+4A>G | |
| ENST00000679709.1:c.*812+4A>G | ENSP00000506623.1:n.*812+4A>G | |
| ENST00000679976.1:c.*433+4A>G | ENSP00000505565.1:n.*433+4A>G | |
| ENST00000680166.1:n.4138+4A>G | ||
| ENST00000680517.1:c.*237+4A>G | ENSP00000505803.1:n.*237+4A>G | |
| ENST00000680582.1:n.1811+4A>G | ||
| ENST00000680613.1:c.*220+4A>G | ENSP00000506114.1:n.*220+4A>G | |
| ENST00000680662.1:c.*763+4A>G | ENSP00000505080.1:n.*763+4A>G | |
| ENST00000680691.1:c.*512+4A>G | ENSP00000506487.1:n.*512+4A>G | |
| ENST00000680694.1:c.*437+4A>G | ENSP00000505658.1:n.*437+4A>G | |
| ENST00000680743.1:c.*516+4A>G | ENSP00000505073.1:n.*516+4A>G | |
| ENST00000680749.1:c.*134+4A>G | ENSP00000505122.1:n.*134+4A>G | |
| ENST00000680798.1:c.*324+4A>G | ENSP00000505670.1:n.*324+4A>G | |
| ENST00000680805.1:c.709-888A>G | ENSP00000505447.1:n.709-888A>G | |
| ENST00000680844.1:c.*633+4A>G | ENSP00000506541.1:n.*633+4A>G | |
| ENST00000680948.1:c.*716+4A>G | ENSP00000505441.1:n.*716+4A>G | |
| ENST00000680964.1:c.849+4A>G | ENSP00000505961.1:n.849+4A>G | |
| ENST00000681037.1:c.*2333+4A>G | ENSP00000506025.1:n.*2333+4A>G | |
| ENST00000681063.1:c.600-888A>G | ENSP00000506616.1:n.600-888A>G | |
| ENST00000681209.1:c.*504+4A>G | ENSP00000505877.1:n.*504+4A>G | |
| ENST00000681278.1:n.1206+4A>G | ||
| ENST00000681289.1:n.4844+4A>G | ||
| ENST00000681361.1:c.*516+4A>G | ENSP00000506679.1:n.*516+4A>G | |
| ENST00000681430.1:c.849+4A>G | ENSP00000506301.1:n.849+4A>G | |
| ENST00000681446.1:c.*431+4A>G | ENSP00000506244.1:n.*431+4A>G | |
| ENST00000681450.1:c.*520+4A>G | ENSP00000505660.1:n.*520+4A>G | |
| ENST00000681548.1:c.*435+4A>G | ENSP00000505275.1:n.*435+4A>G | |
| ENST00000681616.1:c.*508+4A>G | ENSP00000505111.1:n.*508+4A>G | |
| ENST00000681621.1:c.*433+4A>G | ENSP00000505770.1:n.*433+4A>G | |
| ENST00000681680.1:n.2944+4A>G | ||
| ENST00000681720.1:c.*304+4A>G | ENSP00000505438.1:n.*304+4A>G | |
| ENST00000681730.1:n.1071+4A>G | ||
| ENST00000681790.1:c.591+4A>G | ENSP00000505130.1:n.591+4A>G | |
| ENST00000681837.1:n.1465+4A>G | ||
| ENST00000681913.1:n.2973+4A>G | ||
| ENST00000681916.1:c.*617+4A>G | ENSP00000506477.1:n.*617+4A>G | |
| ENST00000681930.1:n.2973+4A>G | ||
| ENST00000370834.9:c.948+4A>G | ENSP00000359871.5:n.948+4A>G | |
| ENST00000370841.8:c.849+4A>G | ENSP00000359878.4:n.849+4A>G | |
| ENST00000420607.6:c.861+4A>G | ENSP00000409612.2:n.861+4A>G | |
| ENST00000525808.5:c.*435+4A>G | ENSP00000434823.1:n.*435+4A>G | |
| ENST00000526129.5:c.*633+4A>G | ENSP00000434092.1:n.*633+4A>G | |
| ENST00000526196.5:c.*617+4A>G | ENSP00000431953.1:n.*617+4A>G | |
| ENST00000528016.1:c.63+4A>G | ENSP00000434284.1:n.63+4A>G | |
| ENST00000529059.5:n.758+4A>G | ||
| ENST00000532207.5:n.579+4A>G | ||
| ENST00000534334.5:c.*433+4A>G | ENSP00000435584.1:n.*433+4A>G | |
| ENST00000541113.5:c.741+4A>G | ENSP00000442324.1:n.741+4A>G | |
| NM_000016.5:c.849+4A>G | NP_000007.1:n.849+4A>G | |
| NM_001127328.2:c.861+4A>G | NP_001120800.1:n.861+4A>G | |
| NM_001286042.1:c.741+4A>G | NP_001272971.1:n.741+4A>G | |
| NM_001286043.1:c.948+4A>G | NP_001272972.1:n.948+4A>G | |
| NM_001286044.1:c.282+4A>G | NP_001272973.1:n.282+4A>G | |
| NM_000016.6:c.849+4A>G MANE Select | NP_000007.1:n.849+4A>G | |
| NM_001127328.3:c.861+4A>G | NP_001120800.1:n.861+4A>G | |
| NM_001286042.2:c.741+4A>G | NP_001272971.1:n.741+4A>G | |
| NM_001286043.2:c.948+4A>G | NP_001272972.1:n.948+4A>G | |
| NM_001286044.2:c.282+4A>G | NP_001272973.1:n.282+4A>G |