Linked Data
ClinVar Variation Id:
130698
ClinVar RCV Id:
RCV000118812
dbSNP Id:
rs34025926
ExAC:
3:126219627 G / A
gnomAD v2:
3-126219627-G-A
gnomAD v3:
3-126500784-G-A
gnomAD v4:
3-126500784-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.126500784G>A , CM000665.2:g.126500784G>A | GRCh38 |
| NC_000003.11:g.126219627G>A , CM000665.1:g.126219627G>A | GRCh37 |
| NC_000003.10:g.127702317G>A | NCBI36 |
| NG_016286.1:g.21968C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290868.7:c.1056C>T MANE Select | ENSP00000290868.2:p.Gly352= | |
| ENST00000290868.6:c.1056C>T | ENSP00000290868.2:p.Gly352= | |
| ENST00000383579.3:c.1236C>T | ENSP00000373073.3:p.Gly412= | |
| NM_001165974.1:c.1236C>T | NP_001159446.1:p.Gly412= | |
| NM_144639.2:c.1056C>T | NP_653240.1:p.Gly352= | |
| NM_144639.3:c.1056C>T MANE Select | NP_653240.1:p.Gly352= | |
| NM_001165974.2:c.1236C>T | NP_001159446.1:p.Gly412= |