Linked Data
ClinVar Variation Id:
466424
ClinVar RCV Id:
RCV000550780
RCV000786222
RCV001189670
RCV001778997
RCV002438388
RCV002483425
RCV003962528
dbSNP Id:
rs757651177
ExAC:
3:14170982 G / A
gnomAD v2:
3-14170982-G-A
gnomAD v3:
3-14129482-G-A
gnomAD v4:
3-14129482-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14129482G>A , CM000665.2:g.14129482G>A | GRCh38 |
| NC_000003.11:g.14170982G>A , CM000665.1:g.14170982G>A | GRCh37 |
| NC_000003.10:g.14145983G>A | NCBI36 |
| NG_008975.1:g.9543G>A , LRG_435:g.9543G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432444.2:c.*113G>A | ENSP00000395617.1:n.*113G>A | |
| ENST00000306077.5:c.83G>A MANE Select | ENSP00000303992.5:p.Arg28Gln | |
| ENST00000306077.4:c.83G>A | ENSP00000303992.4:p.Arg28Gln | |
| ENST00000432444.1:c.*113G>A | ENSP00000395617.1:n.*113G>A | |
| NM_024334.2:c.83G>A , LRG_435t1:c.83G>A | NP_077310.1:p.Arg28Gln | |
| XM_011534109.1:c.-23G>A | XP_011532411.1:n.-23G>A | |
| XM_017007176.2:c.-23G>A | XP_016862665.1:n.-23G>A | |
| NM_024334.3:c.83G>A MANE Select | NP_077310.1:p.Arg28Gln |