Linked Data
ClinVar Variation Id:
1592444
ClinVar RCV Id:
RCV002122250
dbSNP Id:
rs370650216
ExAC:
12:8757839 C / G
gnomAD v2:
12-8757839-C-G
gnomAD v3:
12-8605243-C-G
gnomAD v4:
12-8605243-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8605243C>G , CM000674.2:g.8605243C>G | GRCh38 |
| NC_000012.11:g.8757839C>G , CM000674.1:g.8757839C>G | GRCh37 |
| NC_000012.10:g.8649106C>G | NCBI36 |
| NG_011588.1:g.12604G>C , LRG_17:g.12604G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537228.6:c.399G>C | ENSP00000445691.1:p.Gly133= | |
| ENST00000543081.6:c.399G>C | ENSP00000439103.2:p.Gly133= | |
| ENST00000544516.6:c.157-906G>C | ENSP00000439538.2:n.157-906G>C | |
| ENST00000545576.2:n.508G>C | ||
| ENST00000696246.1:c.384G>C | ENSP00000512504.1:p.Gly128= | |
| ENST00000696271.1:n.519G>C | ||
| ENST00000696272.1:c.384G>C | ENSP00000512515.1:p.Gly128= | |
| ENST00000696273.1:c.432G>C | ENSP00000512516.1:p.Gly144= | |
| ENST00000229335.11:c.399G>C MANE Select | ENSP00000229335.6:p.Gly133= | |
| ENST00000229335.10:c.399G>C | ENSP00000229335.6:p.Gly133= | |
| ENST00000537228.5:c.399G>C | ENSP00000445691.1:p.Gly133= | |
| ENST00000543081.5:c.395G>C | ||
| ENST00000544516.5:c.153-906G>C | ||
| ENST00000545512.1:c.395G>C | ||
| ENST00000545576.1:n.433G>C | ||
| NM_020661.2:c.399G>C , LRG_17t1:c.399G>C | NP_065712.1:p.Gly133= | |
| XM_011520772.1:c.399G>C | XP_011519074.1:p.Gly133= | |
| XM_011520773.1:c.399G>C | XP_011519075.1:p.Gly133= | |
| NM_001330343.1:c.399G>C | NP_001317272.1:p.Gly133= | |
| NM_020661.3:c.399G>C | NP_065712.1:p.Gly133= | |
| XM_011520773.2:c.399G>C | XP_011519075.1:p.Gly133= | |
| NM_020661.4:c.399G>C MANE Select | NP_065712.1:p.Gly133= | |
| NM_001330343.2:c.399G>C | NP_001317272.1:p.Gly133= |