Linked Data
dbSNP Id:
rs1439716562
gnomAD v2:
1-76205841-A-G
gnomAD v3:
1-75740156-A-G
gnomAD v4:
1-75740156-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75740156A>G , CM000663.2:g.75740156A>G | GRCh38 |
| NC_000001.10:g.76205841A>G , CM000663.1:g.76205841A>G | GRCh37 |
| NC_000001.9:g.75978429A>G | NCBI36 |
| NG_007045.2:g.20799A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.599+46A>G MANE Select | ENSP00000359878.5:n.599+46A>G | |
| ENST00000473018.3:n.2723+46A>G | ||
| ENST00000541113.6:c.599+46A>G | ENSP00000442324.2:n.599+46A>G | |
| ENST00000679509.1:n.1561+46A>G | ||
| ENST00000679530.1:c.*367+46A>G | ENSP00000506454.1:n.*367+46A>G | |
| ENST00000679615.1:n.2723+46A>G | ||
| ENST00000679687.1:c.161+46A>G | ENSP00000506598.1:n.161+46A>G | |
| ENST00000679704.1:c.*365+46A>G | ENSP00000505117.1:n.*365+46A>G | |
| ENST00000679709.1:c.*562+46A>G | ENSP00000506623.1:n.*562+46A>G | |
| ENST00000679804.1:n.384A>G | ||
| ENST00000679976.1:c.*183+46A>G | ENSP00000505565.1:n.*183+46A>G | |
| ENST00000680166.1:n.3888+46A>G | ||
| ENST00000680517.1:c.*96+46A>G | ENSP00000505803.1:n.*96+46A>G | |
| ENST00000680582.1:n.1561+46A>G | ||
| ENST00000680613.1:c.599+46A>G | ENSP00000506114.1:n.599+46A>G | |
| ENST00000680662.1:c.*513+46A>G | ENSP00000505080.1:n.*513+46A>G | |
| ENST00000680691.1:c.*262+46A>G | ENSP00000506487.1:n.*262+46A>G | |
| ENST00000680694.1:c.*187+46A>G | ENSP00000505658.1:n.*187+46A>G | |
| ENST00000680743.1:c.*266+46A>G | ENSP00000505073.1:n.*266+46A>G | |
| ENST00000680749.1:c.599+46A>G | ENSP00000505122.1:n.599+46A>G | |
| ENST00000680798.1:c.*183+46A>G | ENSP00000505670.1:n.*183+46A>G | |
| ENST00000680805.1:c.599+46A>G | ENSP00000505447.1:n.599+46A>G | |
| ENST00000680844.1:c.*383+46A>G | ENSP00000506541.1:n.*383+46A>G | |
| ENST00000680948.1:c.*466+46A>G | ENSP00000505441.1:n.*466+46A>G | |
| ENST00000680964.1:c.599+46A>G | ENSP00000505961.1:n.599+46A>G | |
| ENST00000681037.1:c.599+46A>G | ENSP00000506025.1:n.599+46A>G | |
| ENST00000681063.1:c.599+46A>G | ENSP00000506616.1:n.599+46A>G | |
| ENST00000681209.1:c.*363+46A>G | ENSP00000505877.1:n.*363+46A>G | |
| ENST00000681278.1:n.956+46A>G | ||
| ENST00000681289.1:n.956+46A>G | ||
| ENST00000681361.1:c.*266+46A>G | ENSP00000506679.1:n.*266+46A>G | |
| ENST00000681430.1:c.599+46A>G | ENSP00000506301.1:n.599+46A>G | |
| ENST00000681446.1:c.*181+46A>G | ENSP00000506244.1:n.*181+46A>G | |
| ENST00000681450.1:c.*270+46A>G | ENSP00000505660.1:n.*270+46A>G | |
| ENST00000681548.1:c.*185+46A>G | ENSP00000505275.1:n.*185+46A>G | |
| ENST00000681616.1:c.*367+46A>G | ENSP00000505111.1:n.*367+46A>G | |
| ENST00000681621.1:c.*183+46A>G | ENSP00000505770.1:n.*183+46A>G | |
| ENST00000681680.1:n.2723+46A>G | ||
| ENST00000681720.1:c.*55-5650A>G | ENSP00000505438.1:n.*55-5650A>G | |
| ENST00000681730.1:n.821+46A>G | ||
| ENST00000681790.1:c.341+46A>G | ENSP00000505130.1:n.341+46A>G | |
| ENST00000681837.1:n.1215+46A>G | ||
| ENST00000681913.1:n.2723+46A>G | ||
| ENST00000681916.1:c.*367+46A>G | ENSP00000506477.1:n.*367+46A>G | |
| ENST00000681930.1:n.2723+46A>G | ||
| ENST00000370834.9:c.698+46A>G | ENSP00000359871.5:n.698+46A>G | |
| ENST00000370841.8:c.599+46A>G | ENSP00000359878.4:n.599+46A>G | |
| ENST00000420607.6:c.611+46A>G | ENSP00000409612.2:n.611+46A>G | |
| ENST00000525808.5:c.*185+46A>G | ENSP00000434823.1:n.*185+46A>G | |
| ENST00000526129.5:c.*383+46A>G | ENSP00000434092.1:n.*383+46A>G | |
| ENST00000526196.5:c.*367+46A>G | ENSP00000431953.1:n.*367+46A>G | |
| ENST00000526930.1:n.372+46A>G | ||
| ENST00000529059.5:n.508+46A>G | ||
| ENST00000530953.6:c.*96+46A>G | ENSP00000431372.1:n.*96+46A>G | |
| ENST00000532509.5:c.*363+46A>G | ENSP00000432522.1:n.*363+46A>G | |
| ENST00000534334.5:c.*183+46A>G | ENSP00000435584.1:n.*183+46A>G | |
| ENST00000541113.5:c.491+46A>G | ENSP00000442324.1:n.491+46A>G | |
| NM_000016.5:c.599+46A>G | NP_000007.1:n.599+46A>G | |
| NM_001127328.2:c.611+46A>G | NP_001120800.1:n.611+46A>G | |
| NM_001286042.1:c.491+46A>G | NP_001272971.1:n.491+46A>G | |
| NM_001286043.1:c.698+46A>G | NP_001272972.1:n.698+46A>G | |
| NM_001286044.1:c.32+46A>G | NP_001272973.1:n.32+46A>G | |
| NM_000016.6:c.599+46A>G MANE Select | NP_000007.1:n.599+46A>G | |
| NM_001127328.3:c.611+46A>G | NP_001120800.1:n.611+46A>G | |
| NM_001286042.2:c.491+46A>G | NP_001272971.1:n.491+46A>G | |
| NM_001286043.2:c.698+46A>G | NP_001272972.1:n.698+46A>G | |
| NM_001286044.2:c.32+46A>G | NP_001272973.1:n.32+46A>G |