Linked Data
ClinVar Variation Id:
2360990
ClinVar RCV Id:
RCV002989879
dbSNP Id:
rs1191943533
gnomAD v4:
3-138062881-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138062881T>C , CM000665.2:g.138062881T>C | GRCh38 |
| NC_000003.11:g.137781723T>C , CM000665.1:g.137781723T>C | GRCh37 |
| NC_000003.10:g.139264413T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327532.7:c.2239A>G MANE Select | ENSP00000332148.2:p.Lys747Glu | |
| ENST00000327532.6:c.2239A>G | ENSP00000332148.2:p.Lys747Glu | |
| NM_173543.2:c.2239A>G | NP_775814.2:p.Lys747Glu | |
| XM_005247198.2:c.2323A>G | XP_005247255.1:p.Lys775Glu | |
| XM_005247198.3:c.2323A>G | XP_005247255.1:p.Lys775Glu | |
| XR_001740045.1:n.3935A>G | ||
| XR_001740046.1:n.3618A>G | ||
| XR_001740048.1:n.3477A>G | ||
| NM_173543.3:c.2239A>G MANE Select | NP_775814.2:p.Lys747Glu |