Linked Data
ClinVar Variation Id:
136957
ClinVar RCV Id:
RCV000124516
RCV000206818
RCV000296109
RCV000659489
RCV001137058
RCV002277238
RCV003430690
RCV002310689
dbSNP Id:
rs146100075
ExAC:
2:189898907 T / C
gnomAD v2:
2-189898907-T-C
gnomAD v3:
2-189034181-T-C
gnomAD v4:
2-189034181-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189034181T>C , CM000664.2:g.189034181T>C | GRCh38 |
| NC_000002.11:g.189898907T>C , CM000664.1:g.189898907T>C | GRCh37 |
| NC_000002.10:g.189607152T>C | NCBI36 |
| NG_011799.1:g.150699A>G | |
| NG_011799.2:g.150699A>G | |
| NG_011799.3:g.196121A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4389A>G MANE Select | ENSP00000364000.3:p.Glu1463= | |
| ENST00000374866.7:c.4389A>G | ENSP00000364000.3:p.Glu1463= | |
| ENST00000618828.1:c.3228A>G | ENSP00000482184.1:p.Glu1076= | |
| NM_000393.3:c.4389A>G | NP_000384.2:p.Glu1463= | |
| XM_011510573.1:c.4251A>G | XP_011508875.1:p.Glu1417= | |
| NM_000393.4:c.4389A>G | NP_000384.2:p.Glu1463= | |
| XM_011510573.3:c.4251A>G | XP_011508875.1:p.Glu1417= | |
| NM_000393.5:c.4389A>G MANE Select | NP_000384.2:p.Glu1463= |