Linked Data
ClinVar Variation Id:
136952
ClinVar RCV Id:
RCV000124511
RCV000229584
RCV000361816
RCV001507166
RCV002262718
RCV002277236
RCV002312862
RCV000999869
dbSNP Id:
rs62184175
ExAC:
2:189904234 G / C
gnomAD v2:
2-189904234-G-C
gnomAD v3:
2-189039508-G-C
gnomAD v4:
2-189039508-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189039508G>C , CM000664.2:g.189039508G>C | GRCh38 |
| NC_000002.11:g.189904234G>C , CM000664.1:g.189904234G>C | GRCh37 |
| NC_000002.10:g.189612479G>C | NCBI36 |
| NG_011799.1:g.145372C>G | |
| NG_011799.2:g.145372C>G | |
| NG_011799.3:g.190794C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3689C>G MANE Select | ENSP00000364000.3:p.Thr1230Arg | |
| ENST00000374866.7:c.3689C>G | ENSP00000364000.3:p.Thr1230Arg | |
| ENST00000618828.1:c.2528C>G | ENSP00000482184.1:p.Thr843Arg | |
| NM_000393.3:c.3689C>G | NP_000384.2:p.Thr1230Arg | |
| XM_011510573.1:c.3551C>G | XP_011508875.1:p.Thr1184Arg | |
| NM_000393.4:c.3689C>G | NP_000384.2:p.Thr1230Arg | |
| XM_011510573.3:c.3551C>G | XP_011508875.1:p.Thr1184Arg | |
| NM_000393.5:c.3689C>G MANE Select | NP_000384.2:p.Thr1230Arg |