Linked Data
dbSNP Id:
rs35658696
ExAC:
5:102338811 A / G
gnomAD v2:
5-102338811-A-G
gnomAD v3:
5-103003107-A-G
gnomAD v4:
5-103003107-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.103003107A>G , CM000667.2:g.103003107A>G | GRCh38 |
| NC_000005.9:g.102338811A>G , CM000667.1:g.102338811A>G | GRCh37 |
| NC_000005.8:g.102366710A>G | NCBI36 |
| NG_029444.1:g.142285A>G | |
| NG_029444.2:g.253325A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304400.12:c.1688A>G | ENSP00000306100.8:p.Asp563Gly | |
| ENST00000346918.7:c.1688A>G | ENSP00000282992.3:p.Asp563Gly | |
| ENST00000348126.7:c.1367A>G | ENSP00000314638.3:p.Asp456Gly | |
| ENST00000438793.8:c.1688A>G MANE Select | ENSP00000396493.3:p.Asp563Gly | |
| ENST00000455264.7:c.1688A>G | ENSP00000403461.2:p.Asp563Gly | |
| ENST00000510208.2:c.1367A>G | ENSP00000508091.1:p.Asp456Gly | |
| ENST00000682024.1:c.*1503A>G | ENSP00000507752.1:n.*1503A>G | |
| ENST00000682407.1:c.1688A>G | ENSP00000506966.1:p.Asp563Gly | |
| ENST00000682882.1:c.1460A>G | ENSP00000507990.1:p.Asp487Gly | |
| ENST00000682972.1:c.1367A>G | ENSP00000507172.1:p.Asp456Gly | |
| ENST00000684043.1:c.1460A>G | ENSP00000506915.1:p.Asp487Gly | |
| ENST00000684379.1:c.*1102A>G | ENSP00000507375.1:n.*1102A>G | |
| ENST00000684529.1:c.1688A>G | ENSP00000507038.1:p.Asp563Gly | |
| ENST00000304400.11:c.1688A>G | ENSP00000306100.7:p.Asp563Gly | |
| ENST00000345721.6:c.*1102A>G | ENSP00000302544.4:n.*1102A>G | |
| ENST00000346918.6:c.1688A>G | ENSP00000282992.3:p.Asp563Gly | |
| ENST00000348126.6:c.1367A>G | ENSP00000314638.3:p.Asp456Gly | |
| ENST00000379799.7:c.1005A>G | ||
| ENST00000438793.7:c.1688A>G | ENSP00000396493.3:p.Asp563Gly | |
| ENST00000455264.6:c.1688A>G | ENSP00000403461.2:p.Asp563Gly | |
| ENST00000511429.1:n.706A>G | ||
| NM_000919.3:c.1688A>G | NP_000910.2:p.Asp563Gly | |
| NM_001177306.1:c.1688A>G | NP_001170777.1:p.Asp563Gly | |
| NM_138766.2:c.1688A>G | NP_620121.1:p.Asp563Gly | |
| NM_138821.2:c.1367A>G | NP_620176.1:p.Asp456Gly | |
| NM_138822.2:c.1688A>G | NP_620177.1:p.Asp563Gly | |
| NR_033440.1:n.2003A>G | ||
| XM_006714632.1:c.1688A>G | XP_006714695.1:p.Asp563Gly | |
| XM_006714634.1:c.1688A>G | XP_006714697.1:p.Asp563Gly | |
| XM_006714636.1:c.1688A>G | XP_006714699.1:p.Asp563Gly | |
| XM_006714638.1:c.1688A>G | XP_006714701.1:p.Asp563Gly | |
| XM_006714639.1:c.1367A>G | XP_006714702.1:p.Asp456Gly | |
| XM_006714640.1:c.1367A>G | XP_006714703.1:p.Asp456Gly | |
| XM_011543418.1:c.1742A>G | XP_011541720.1:p.Asp581Gly | |
| XM_011543419.1:c.1742A>G | XP_011541721.1:p.Asp581Gly | |
| XM_011543420.1:c.1742A>G | XP_011541722.1:p.Asp581Gly | |
| XM_011543421.1:c.1742A>G | XP_011541723.1:p.Asp581Gly | |
| XM_011543422.1:c.1742A>G | XP_011541724.1:p.Asp581Gly | |
| XM_011543423.1:c.1742A>G | XP_011541725.1:p.Asp581Gly | |
| XM_011543424.1:c.1742A>G | XP_011541726.1:p.Asp581Gly | |
| XM_011543425.1:c.1742A>G | XP_011541727.1:p.Asp581Gly | |
| XM_011543426.1:c.1742A>G | XP_011541728.1:p.Asp581Gly | |
| XM_011543427.1:c.1742A>G | XP_011541729.1:p.Asp581Gly | |
| XR_948263.1:n.2188A>G | ||
| XR_948264.1:n.2188A>G | ||
| XR_948265.1:n.2188A>G | ||
| XR_948266.1:n.2188A>G | ||
| NM_001319943.1:c.1742A>G | NP_001306872.1:p.Asp581Gly | |
| NM_001364582.1:c.1688A>G | NP_001351511.1:p.Asp563Gly | |
| NM_001364583.1:c.1688A>G | NP_001351512.1:p.Asp563Gly | |
| NM_001364584.1:c.1688A>G | NP_001351513.1:p.Asp563Gly | |
| NM_001364585.1:c.1688A>G | NP_001351514.1:p.Asp563Gly | |
| NM_001364586.1:c.1367A>G | NP_001351515.1:p.Asp456Gly | |
| NM_001364587.1:c.1367A>G | NP_001351516.1:p.Asp456Gly | |
| NM_001364588.1:c.1367A>G | NP_001351517.1:p.Asp456Gly | |
| NM_001364589.1:c.1367A>G | NP_001351518.1:p.Asp456Gly | |
| NM_001364590.1:c.1460A>G | NP_001351519.1:p.Asp487Gly | |
| NM_001364591.1:c.1421A>G | NP_001351520.1:p.Asp474Gly | |
| NM_001364592.1:c.1421A>G | NP_001351521.1:p.Asp474Gly | |
| NM_001364593.1:c.1367A>G | NP_001351522.1:p.Asp456Gly | |
| NM_001364594.1:c.1367A>G | NP_001351523.1:p.Asp456Gly | |
| XM_011543419.3:c.1742A>G | XP_011541721.1:p.Asp581Gly | |
| XM_017009495.2:c.1742A>G | XP_016864984.1:p.Asp581Gly | |
| XM_017009496.2:c.1742A>G | XP_016864985.1:p.Asp581Gly | |
| XM_017009497.2:c.1688A>G | XP_016864986.1:p.Asp563Gly | |
| XM_017009502.2:c.1742A>G | XP_016864991.1:p.Asp581Gly | |
| XM_017009504.2:c.1688A>G | XP_016864993.1:p.Asp563Gly | |
| XM_017009505.2:c.1688A>G | XP_016864994.1:p.Asp563Gly | |
| XM_017009507.2:c.1367A>G | XP_016864996.1:p.Asp456Gly | |
| XM_017009511.2:c.1742A>G | XP_016865000.1:p.Asp581Gly | |
| XM_024446066.1:c.1742A>G | XP_024301834.1:p.Asp581Gly | |
| XM_024446067.1:c.1688A>G | XP_024301835.1:p.Asp563Gly | |
| XM_024446068.1:c.1688A>G | XP_024301836.1:p.Asp563Gly | |
| XM_024446069.1:c.1742A>G | XP_024301837.1:p.Asp581Gly | |
| XM_024446070.1:c.1688A>G | XP_024301838.1:p.Asp563Gly | |
| XM_024446072.1:c.1742A>G | XP_024301840.1:p.Asp581Gly | |
| XM_024446074.1:c.1688A>G | XP_024301842.1:p.Asp563Gly | |
| XM_024446075.1:c.1742A>G | XP_024301843.1:p.Asp581Gly | |
| XM_024446076.1:c.1688A>G | XP_024301844.1:p.Asp563Gly | |
| XM_024446078.1:c.1367A>G | XP_024301846.1:p.Asp456Gly | |
| XM_024446080.1:c.1742A>G | XP_024301848.1:p.Asp581Gly | |
| XM_024446081.1:c.1742A>G | XP_024301849.1:p.Asp581Gly | |
| XM_024446084.1:c.1367A>G | XP_024301852.1:p.Asp456Gly | |
| XM_024446085.1:c.1514A>G | XP_024301853.1:p.Asp505Gly | |
| XR_001742084.2:n.2188A>G | ||
| XR_001742086.2:n.2188A>G | ||
| XR_002956157.1:n.2188A>G | ||
| XR_002956158.1:n.2188A>G | ||
| NM_001364582.2:c.1688A>G | NP_001351511.1:p.Asp563Gly | |
| NM_001364583.2:c.1688A>G | NP_001351512.1:p.Asp563Gly | |
| NM_001364584.2:c.1688A>G | NP_001351513.1:p.Asp563Gly | |
| NM_001364585.2:c.1688A>G | NP_001351514.1:p.Asp563Gly | |
| NM_001364586.2:c.1367A>G | NP_001351515.1:p.Asp456Gly | |
| NM_001364587.2:c.1367A>G | NP_001351516.1:p.Asp456Gly | |
| NM_001364588.2:c.1367A>G | NP_001351517.1:p.Asp456Gly | |
| NM_001364589.2:c.1367A>G | NP_001351518.1:p.Asp456Gly | |
| NM_001364590.2:c.1460A>G | NP_001351519.1:p.Asp487Gly | |
| NM_001364591.2:c.1421A>G | NP_001351520.1:p.Asp474Gly | |
| NM_001364592.2:c.1421A>G | NP_001351521.1:p.Asp474Gly | |
| NM_001364593.2:c.1367A>G | NP_001351522.1:p.Asp456Gly | |
| NM_001364594.2:c.1367A>G | NP_001351523.1:p.Asp456Gly | |
| NM_000919.4:c.1688A>G | NP_000910.2:p.Asp563Gly | |
| NM_001177306.2:c.1688A>G MANE Select | NP_001170777.1:p.Asp563Gly |