Linked Data
ClinVar Variation Id:
2154541
ClinVar RCV Id:
RCV003069336
dbSNP Id:
rs768880089
ExAC:
1:76215255 T / A
gnomAD v2:
1-76215255-T-A
gnomAD v3:
1-75749570-T-A
gnomAD v4:
1-75749570-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749570T>A , CM000663.2:g.75749570T>A | GRCh38 |
| NC_000001.10:g.76215255T>A , CM000663.1:g.76215255T>A | GRCh37 |
| NC_000001.9:g.75987843T>A | NCBI36 |
| NG_007045.2:g.30213T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.849+11T>A MANE Select | ENSP00000359878.5:n.849+11T>A | |
| ENST00000473018.3:n.2973+11T>A | ||
| ENST00000532207.6:n.1738+11T>A | ||
| ENST00000541113.6:c.849+11T>A | ENSP00000442324.2:n.849+11T>A | |
| ENST00000679509.1:n.1811+11T>A | ||
| ENST00000679530.1:c.*617+11T>A | ENSP00000506454.1:n.*617+11T>A | |
| ENST00000679615.1:n.2864+11T>A | ||
| ENST00000679687.1:c.411+11T>A | ENSP00000506598.1:n.411+11T>A | |
| ENST00000679704.1:c.*615+11T>A | ENSP00000505117.1:n.*615+11T>A | |
| ENST00000679709.1:c.*812+11T>A | ENSP00000506623.1:n.*812+11T>A | |
| ENST00000679976.1:c.*433+11T>A | ENSP00000505565.1:n.*433+11T>A | |
| ENST00000680166.1:n.4138+11T>A | ||
| ENST00000680517.1:c.*237+11T>A | ENSP00000505803.1:n.*237+11T>A | |
| ENST00000680582.1:n.1811+11T>A | ||
| ENST00000680613.1:c.*220+11T>A | ENSP00000506114.1:n.*220+11T>A | |
| ENST00000680662.1:c.*763+11T>A | ENSP00000505080.1:n.*763+11T>A | |
| ENST00000680691.1:c.*512+11T>A | ENSP00000506487.1:n.*512+11T>A | |
| ENST00000680694.1:c.*437+11T>A | ENSP00000505658.1:n.*437+11T>A | |
| ENST00000680743.1:c.*516+11T>A | ENSP00000505073.1:n.*516+11T>A | |
| ENST00000680749.1:c.*134+11T>A | ENSP00000505122.1:n.*134+11T>A | |
| ENST00000680798.1:c.*324+11T>A | ENSP00000505670.1:n.*324+11T>A | |
| ENST00000680805.1:c.709-881T>A | ENSP00000505447.1:n.709-881T>A | |
| ENST00000680844.1:c.*633+11T>A | ENSP00000506541.1:n.*633+11T>A | |
| ENST00000680948.1:c.*716+11T>A | ENSP00000505441.1:n.*716+11T>A | |
| ENST00000680964.1:c.849+11T>A | ENSP00000505961.1:n.849+11T>A | |
| ENST00000681037.1:c.*2333+11T>A | ENSP00000506025.1:n.*2333+11T>A | |
| ENST00000681063.1:c.600-881T>A | ENSP00000506616.1:n.600-881T>A | |
| ENST00000681209.1:c.*504+11T>A | ENSP00000505877.1:n.*504+11T>A | |
| ENST00000681278.1:n.1206+11T>A | ||
| ENST00000681289.1:n.4844+11T>A | ||
| ENST00000681361.1:c.*516+11T>A | ENSP00000506679.1:n.*516+11T>A | |
| ENST00000681430.1:c.849+11T>A | ENSP00000506301.1:n.849+11T>A | |
| ENST00000681446.1:c.*431+11T>A | ENSP00000506244.1:n.*431+11T>A | |
| ENST00000681450.1:c.*520+11T>A | ENSP00000505660.1:n.*520+11T>A | |
| ENST00000681548.1:c.*435+11T>A | ENSP00000505275.1:n.*435+11T>A | |
| ENST00000681616.1:c.*508+11T>A | ENSP00000505111.1:n.*508+11T>A | |
| ENST00000681621.1:c.*433+11T>A | ENSP00000505770.1:n.*433+11T>A | |
| ENST00000681680.1:n.2944+11T>A | ||
| ENST00000681720.1:c.*304+11T>A | ENSP00000505438.1:n.*304+11T>A | |
| ENST00000681730.1:n.1071+11T>A | ||
| ENST00000681790.1:c.591+11T>A | ENSP00000505130.1:n.591+11T>A | |
| ENST00000681837.1:n.1465+11T>A | ||
| ENST00000681913.1:n.2973+11T>A | ||
| ENST00000681916.1:c.*617+11T>A | ENSP00000506477.1:n.*617+11T>A | |
| ENST00000681930.1:n.2973+11T>A | ||
| ENST00000370834.9:c.948+11T>A | ENSP00000359871.5:n.948+11T>A | |
| ENST00000370841.8:c.849+11T>A | ENSP00000359878.4:n.849+11T>A | |
| ENST00000420607.6:c.861+11T>A | ENSP00000409612.2:n.861+11T>A | |
| ENST00000525808.5:c.*435+11T>A | ENSP00000434823.1:n.*435+11T>A | |
| ENST00000526129.5:c.*633+11T>A | ENSP00000434092.1:n.*633+11T>A | |
| ENST00000526196.5:c.*617+11T>A | ENSP00000431953.1:n.*617+11T>A | |
| ENST00000528016.1:c.63+11T>A | ENSP00000434284.1:n.63+11T>A | |
| ENST00000529059.5:n.758+11T>A | ||
| ENST00000532207.5:n.579+11T>A | ||
| ENST00000534334.5:c.*433+11T>A | ENSP00000435584.1:n.*433+11T>A | |
| ENST00000541113.5:c.741+11T>A | ENSP00000442324.1:n.741+11T>A | |
| NM_000016.5:c.849+11T>A | NP_000007.1:n.849+11T>A | |
| NM_001127328.2:c.861+11T>A | NP_001120800.1:n.861+11T>A | |
| NM_001286042.1:c.741+11T>A | NP_001272971.1:n.741+11T>A | |
| NM_001286043.1:c.948+11T>A | NP_001272972.1:n.948+11T>A | |
| NM_001286044.1:c.282+11T>A | NP_001272973.1:n.282+11T>A | |
| NM_000016.6:c.849+11T>A MANE Select | NP_000007.1:n.849+11T>A | |
| NM_001127328.3:c.861+11T>A | NP_001120800.1:n.861+11T>A | |
| NM_001286042.2:c.741+11T>A | NP_001272971.1:n.741+11T>A | |
| NM_001286043.2:c.948+11T>A | NP_001272972.1:n.948+11T>A | |
| NM_001286044.2:c.282+11T>A | NP_001272973.1:n.282+11T>A |