Linked Data
ClinVar Variation Id:
347169
dbSNP Id:
rs759777516
ExAC:
4:110682791 T / C
gnomAD v2:
4-110682791-T-C
gnomAD v3:
4-109761635-T-C
gnomAD v4:
4-109761635-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109761635T>C , CM000666.2:g.109761635T>C | GRCh38 |
| NC_000004.11:g.110682791T>C , CM000666.1:g.110682791T>C | GRCh37 |
| NC_000004.10:g.110902240T>C | NCBI36 |
| NG_007569.1:g.45351A>G , LRG_48:g.45351A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695844.1:n.719A>G | ||
| ENST00000695845.1:n.718A>G | ||
| ENST00000695846.1:n.540A>G | ||
| ENST00000394634.7:c.540A>G MANE Select | ENSP00000378130.2:p.Glu180= | |
| ENST00000394635.8:c.540A>G | ENSP00000378131.3:p.Glu180= | |
| ENST00000645635.1:c.540A>G | ENSP00000493607.1:p.Glu180= | |
| ENST00000394634.6:c.540A>G | ENSP00000378130.2:p.Glu180= | |
| ENST00000394635.7:c.540A>G | ENSP00000378131.3:p.Glu180= | |
| ENST00000504853.3:n.957A>G | ||
| ENST00000512148.5:c.540A>G | ENSP00000427438.1:p.Glu180= | |
| ENST00000618244.4:c.540A>G | ENSP00000483416.1:p.Glu180= | |
| NM_000204.3:c.540A>G , LRG_48t1:c.540A>G | NP_000195.2:p.Glu180= | |
| XM_005262975.1:c.540A>G | XP_005263032.1:p.Glu180= | |
| XM_005262976.1:c.540A>G | XP_005263033.1:p.Glu180= | |
| XM_006714209.1:c.540A>G | XP_006714272.1:p.Glu180= | |
| XM_006714210.2:c.540A>G | XP_006714273.1:p.Glu180= | |
| XM_011531920.1:c.540A>G | XP_011530222.1:p.Glu180= | |
| NM_000204.4:c.540A>G | NP_000195.2:p.Glu180= | |
| NM_001318057.1:c.540A>G | NP_001304986.1:p.Glu180= | |
| NM_001331035.1:c.540A>G | NP_001317964.1:p.Glu180= | |
| XM_006714210.4:c.540A>G | XP_006714273.1:p.Glu180= | |
| XM_011531920.2:c.540A>G | XP_011530222.1:p.Glu180= | |
| XM_017008164.2:c.540A>G | XP_016863653.1:p.Glu180= | |
| XM_017008165.2:c.540A>G | XP_016863654.1:p.Glu180= | |
| XM_017008166.2:c.540A>G | XP_016863655.1:p.Glu180= | |
| NM_001318057.2:c.540A>G | NP_001304986.2:p.Glu180= | |
| NM_001331035.2:c.540A>G | NP_001317964.1:p.Glu180= | |
| NM_001375278.1:c.540A>G | NP_001362207.1:p.Glu180= | |
| NM_001375279.1:c.540A>G | NP_001362208.1:p.Glu180= | |
| NM_001375280.1:c.540A>G | NP_001362209.1:p.Glu180= | |
| NM_001375281.1:c.540A>G | NP_001362210.1:p.Glu180= | |
| NM_001375282.1:c.540A>G | NP_001362211.1:p.Glu180= | |
| NM_001375283.1:c.540A>G | NP_001362212.1:p.Glu180= | |
| NM_001375284.1:c.-70A>G | NP_001362213.1:n.-70A>G | |
| NR_164671.1:n.568A>G | ||
| NR_164672.1:n.568A>G | ||
| NR_164673.1:n.568A>G | ||
| NM_000204.5:c.540A>G MANE Select | NP_000195.3:p.Glu180= |