Linked Data
ClinVar Variation Id:
5127
ClinVar RCV Id:
RCV000005434
dbSNP Id:
rs104894323
ExAC:
12:8757505 G / T
gnomAD v2:
12-8757505-G-T
gnomAD v3:
12-8604909-G-T
gnomAD v4:
12-8604909-G-T
PubMed:
PMID:11007475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8604909G>T , CM000674.2:g.8604909G>T | GRCh38 |
| NC_000012.11:g.8757505G>T , CM000674.1:g.8757505G>T | GRCh37 |
| NC_000012.10:g.8648772G>T | NCBI36 |
| NG_011588.1:g.12938C>A , LRG_17:g.12938C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537228.6:c.428-17C>A | ENSP00000445691.1:n.428-17C>A | |
| ENST00000543081.6:c.427+306C>A | ENSP00000439103.2:n.427+306C>A | |
| ENST00000544516.6:c.157-572C>A | ENSP00000439538.2:n.157-572C>A | |
| ENST00000545576.2:n.842C>A | ||
| ENST00000696246.1:c.413-17C>A | ENSP00000512504.1:n.413-17C>A | |
| ENST00000696271.1:n.853C>A | ||
| ENST00000696272.1:c.426C>A | ENSP00000512515.1:p.Cys142Ter | |
| ENST00000696273.1:c.474C>A | ENSP00000512516.1:p.Cys158Ter | |
| ENST00000229335.11:c.441C>A MANE Select | ENSP00000229335.6:p.Cys147Ter | |
| ENST00000229335.10:c.441C>A | ENSP00000229335.6:p.Cys147Ter | |
| ENST00000537228.5:c.428-17C>A | ENSP00000445691.1:n.428-17C>A | |
| ENST00000543081.5:c.423+306C>A | ||
| ENST00000544516.5:c.153-572C>A | ||
| ENST00000545512.1:c.437C>A | ||
| ENST00000545576.1:n.767C>A | ||
| NM_020661.2:c.441C>A , LRG_17t1:c.441C>A | NP_065712.1:p.Cys147Ter | |
| XM_011520772.1:c.428-17C>A | XP_011519074.1:n.428-17C>A | |
| XM_011520773.1:c.427+306C>A | XP_011519075.1:n.427+306C>A | |
| NM_001330343.1:c.428-17C>A | NP_001317272.1:n.428-17C>A | |
| NM_020661.3:c.441C>A | NP_065712.1:p.Cys147Ter | |
| XM_011520773.2:c.427+306C>A | XP_011519075.1:n.427+306C>A | |
| NM_020661.4:c.441C>A MANE Select | NP_065712.1:p.Cys147Ter | |
| NM_001330343.2:c.428-17C>A | NP_001317272.1:n.428-17C>A |