Linked Data
ClinVar Variation Id:
1155999
ClinVar RCV Id:
RCV001498536
dbSNP Id:
rs1366120426
gnomAD v2:
1-45966052-A-G
gnomAD v3:
1-45500380-A-G
gnomAD v4:
1-45500380-A-G
COSMIC:
COSM1242519
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500380A>G , CM000663.2:g.45500380A>G | GRCh38 |
| NC_000001.10:g.45966052A>G , CM000663.1:g.45966052A>G | GRCh37 |
| NC_000001.9:g.45738639A>G | NCBI36 |
| NG_013378.1:g.5197A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.48A>G MANE Select | ENSP00000383840.4:p.Leu16= | |
| ENST00000401061.8:c.48A>G | ENSP00000383840.4:p.Leu16= | |
| ENST00000616135.1:c.-124A>G | ENSP00000478859.1:n.-124A>G | |
| NM_015506.2:c.48A>G | NP_056321.2:p.Leu16= | |
| XM_005270724.3:c.48A>G | XP_005270781.1:p.Leu16= | |
| XM_011541204.1:c.-175A>G | XP_011539506.1:n.-175A>G | |
| NM_001330540.1:c.-175A>G | NP_001317469.1:n.-175A>G | |
| XM_005270724.5:c.48A>G | XP_005270781.1:p.Leu16= | |
| NM_015506.3:c.48A>G MANE Select | NP_056321.2:p.Leu16= | |
| NM_001330540.2:c.-175A>G | NP_001317469.1:n.-175A>G |