Linked Data
ClinVar Variation Id:
181567
ClinVar RCV Id:
RCV000471611
RCV000497492
RCV000770185
RCV003236784
RCV001808432
RCV002326908
RCV003952794
dbSNP Id:
rs730881061
gnomAD v3:
3-52451415-T-C
gnomAD v4:
3-52451415-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451415T>C , CM000665.2:g.52451415T>C | GRCh38 |
| NC_000003.11:g.52485431T>C , CM000665.1:g.52485431T>C | GRCh37 |
| NC_000003.10:g.52460471T>C | NCBI36 |
| NG_008963.1:g.7627A>G , LRG_378:g.7627A>G | |
| NG_033112.1:g.908T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.430A>G MANE Select | ENSP00000232975.3:p.Asn144Asp | |
| ENST00000232975.7:c.430A>G | ENSP00000232975.3:p.Asn144Asp | |
| ENST00000496590.1:c.298A>G | ||
| NM_003280.2:c.430A>G , LRG_378t1:c.430A>G | NP_003271.1:p.Asn144Asp | |
| NM_003280.3:c.430A>G MANE Select | NP_003271.1:p.Asn144Asp |