Linked Data
ClinVar Variation Id:
725462
ClinVar RCV Id:
RCV000899527
dbSNP Id:
rs1290597204
gnomAD v2:
3-13916597-G-T
gnomAD v4:
3-13875100-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13875100G>T , CM000665.2:g.13875100G>T | GRCh38 |
| NC_000003.11:g.13916597G>T , CM000665.1:g.13916597G>T | GRCh37 |
| NC_000003.10:g.13891598G>T | NCBI36 |
| NG_008088.1:g.10022C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285018.5:c.145C>A MANE Select | ENSP00000285018.4:p.Arg49= | |
| ENST00000285018.4:c.145C>A | ENSP00000285018.4:p.Arg49= | |
| ENST00000489346.1:n.14C>A | ||
| ENST00000497808.1:n.377C>A | ||
| NM_004625.3:c.145C>A | NP_004616.2:p.Arg49= | |
| XM_011534090.1:c.-57C>A | XP_011532392.1:n.-57C>A | |
| XM_011534091.1:c.-57C>A | XP_011532393.1:n.-57C>A | |
| XM_011534091.2:c.-57C>A | XP_011532393.1:n.-57C>A | |
| NM_004625.4:c.145C>A MANE Select | NP_004616.2:p.Arg49= |