Linked Data
ClinVar Variation Id:
288788
dbSNP Id:
rs147325795
ExAC:
2:20113365 A / C
gnomAD v2:
2-20113365-A-C
gnomAD v3:
2-19913604-A-C
gnomAD v4:
2-19913604-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19913604A>C , CM000664.2:g.19913604A>C | GRCh38 |
| NC_000002.11:g.20113365A>C , CM000664.1:g.20113365A>C | GRCh37 |
| NC_000002.10:g.19976846A>C | NCBI36 |
| NG_021212.1:g.81520T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.3467T>G MANE Select | ENSP00000281405.5:p.Ile1156Arg | |
| ENST00000345530.8:c.3500T>G MANE Plus Clinical | ENSP00000314444.5:p.Ile1167Arg | |
| ENST00000281405.8:c.3467T>G | ENSP00000281405.4:p.Ile1156Arg | |
| ENST00000345530.7:c.3500T>G | ENSP00000314444.5:p.Ile1167Arg | |
| ENST00000414212.5:c.*782T>G | ENSP00000390802.1:n.*782T>G | |
| ENST00000445063.5:c.2426T>G | ||
| NM_001006657.1:c.3500T>G | NP_001006658.1:p.Ile1167Arg | |
| NM_020779.3:c.3467T>G | NP_065830.2:p.Ile1156Arg | |
| XM_011533007.1:c.2195T>G | XP_011531309.1:p.Ile732Arg | |
| XM_011533007.2:c.2195T>G | XP_011531309.1:p.Ile732Arg | |
| XR_426989.3:n.3400T>G | ||
| NM_001006657.2:c.3500T>G MANE Plus Clinical | NP_001006658.1:p.Ile1167Arg | |
| NM_020779.4:c.3467T>G MANE Select | NP_065830.2:p.Ile1156Arg |