Linked Data
dbSNP Id:
rs1565509075
gnomAD v2:
12-8757195-A-C
gnomAD v3:
12-8604599-A-C
gnomAD v4:
12-8604599-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8604599A>C , CM000674.2:g.8604599A>C | GRCh38 |
| NC_000012.11:g.8757195A>C , CM000674.1:g.8757195A>C | GRCh37 |
| NC_000012.10:g.8648462A>C | NCBI36 |
| NG_011588.1:g.13248T>G , LRG_17:g.13248T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537228.6:c.513+208T>G | ENSP00000445691.1:n.513+208T>G | |
| ENST00000543081.6:c.428-262T>G | ENSP00000439103.2:n.428-262T>G | |
| ENST00000544516.6:c.157-262T>G | ENSP00000439538.2:n.157-262T>G | |
| ENST00000545576.2:n.944+208T>G | ||
| ENST00000696246.1:c.498+208T>G | ENSP00000512504.1:n.498+208T>G | |
| ENST00000696271.1:n.955+208T>G | ||
| ENST00000696272.1:c.528+208T>G | ENSP00000512515.1:n.528+208T>G | |
| ENST00000696273.1:c.576+208T>G | ENSP00000512516.1:n.576+208T>G | |
| ENST00000229335.11:c.543+208T>G MANE Select | ENSP00000229335.6:n.543+208T>G | |
| ENST00000229335.10:c.543+208T>G | ENSP00000229335.6:n.543+208T>G | |
| ENST00000537228.5:c.513+208T>G | ENSP00000445691.1:n.513+208T>G | |
| ENST00000543081.5:c.424-262T>G | ||
| ENST00000544516.5:c.153-262T>G | ||
| ENST00000545512.1:c.539+208T>G | ||
| ENST00000545576.1:n.869+208T>G | ||
| NM_020661.2:c.543+208T>G , LRG_17t1:c.543+208T>G | NP_065712.1:n.543+208T>G | |
| XM_011520772.1:c.513+208T>G | XP_011519074.1:n.513+208T>G | |
| XM_011520773.1:c.428-262T>G | XP_011519075.1:n.428-262T>G | |
| NM_001330343.1:c.513+208T>G | NP_001317272.1:n.513+208T>G | |
| NM_020661.3:c.543+208T>G | NP_065712.1:n.543+208T>G | |
| XM_011520773.2:c.428-262T>G | XP_011519075.1:n.428-262T>G | |
| NM_020661.4:c.543+208T>G MANE Select | NP_065712.1:n.543+208T>G | |
| NM_001330343.2:c.513+208T>G | NP_001317272.1:n.513+208T>G |