Linked Data
ClinVar Variation Id:
1962067
ClinVar RCV Id:
RCV002735001
dbSNP Id:
rs918777427
gnomAD v2:
9-123719641-T-C
gnomAD v3:
9-120957363-T-C
gnomAD v4:
9-120957363-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120957363T>C , CM000671.2:g.120957363T>C | GRCh38 |
| NC_000009.11:g.123719641T>C , CM000671.1:g.123719641T>C | GRCh37 |
| NC_000009.10:g.122759462T>C | NCBI36 |
| NG_007364.1:g.97914A>G , LRG_28:g.97914A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1718A>G | ||
| ENST00000696279.1:c.5004A>G | ||
| ENST00000696280.1:n.4773A>G | ||
| ENST00000696281.1:c.4702A>G | ENSP00000512521.1:p.Lys1568Glu | |
| ENST00000697921.1:n.3562A>G | ||
| ENST00000697922.1:c.*4674A>G | ENSP00000513478.1:n.*4674A>G | |
| ENST00000697923.1:n.5129A>G | ||
| ENST00000223642.3:c.4684A>G MANE Select | ENSP00000223642.1:p.Lys1562Glu | |
| ENST00000223642.2:c.4684A>G | ENSP00000223642.1:p.Lys1562Glu | |
| ENST00000480188.1:n.217A>G | ||
| NM_001735.2:c.4684A>G , LRG_28t1:c.4684A>G | NP_001726.2:p.Lys1562Glu | |
| XM_011518980.1:c.4699A>G | XP_011517282.1:p.Lys1567Glu | |
| NM_001317163.1:c.4702A>G | NP_001304092.1:p.Lys1568Glu | |
| NM_001317163.2:c.4702A>G | NP_001304092.1:p.Lys1568Glu | |
| NM_001735.3:c.4684A>G MANE Select | NP_001726.2:p.Lys1562Glu |