Linked Data
ClinVar Variation Id:
200016
ClinVar RCV Id:
RCV000181484
RCV002277441
RCV002500529
RCV000690524
RCV000781357
RCV001179626
RCV003996682
dbSNP Id:
rs747189975
ExAC:
15:48779583 T / C
gnomAD v2:
15-48779583-T-C
gnomAD v3:
15-48487386-T-C
gnomAD v4:
15-48487386-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48487386T>C , CM000677.2:g.48487386T>C | GRCh38 |
| NC_000015.9:g.48779583T>C , CM000677.1:g.48779583T>C | GRCh37 |
| NC_000015.8:g.46566875T>C | NCBI36 |
| NG_008805.2:g.163403A>G , LRG_778:g.163403A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3389A>G | ENSP00000453958.2:p.His1130Arg | |
| ENST00000674301.2:c.3389A>G | ENSP00000501333.2:p.His1130Arg | |
| ENST00000684448.1:n.2063A>G | ||
| ENST00000316623.10:c.3389A>G MANE Select | ENSP00000325527.5:p.His1130Arg | |
| ENST00000316623.9:c.3389A>G | ENSP00000325527.5:p.His1130Arg | |
| ENST00000537463.6:c.637-12736A>G | ENSP00000440294.2:n.637-12736A>G | |
| NM_000138.4:c.3389A>G , LRG_778t1:c.3389A>G | NP_000129.3:p.His1130Arg | |
| NM_000138.5:c.3389A>G MANE Select | NP_000129.3:p.His1130Arg |