Linked Data
ClinVar Variation Id:
2286445
ClinVar RCV Id:
RCV002845433
dbSNP Id:
rs1213935398
gnomAD v2:
1-41249908-T-A
gnomAD v3:
1-40784236-T-A
gnomAD v4:
1-40784236-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784236T>A , CM000663.2:g.40784236T>A | GRCh38 |
| NC_000001.10:g.41249908T>A , CM000663.1:g.41249908T>A | GRCh37 |
| NC_000001.9:g.41022495T>A | NCBI36 |
| NG_008139.1:g.5225T>A | |
| NG_008139.2:g.5225T>A | |
| NG_008139.3:g.5450T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.143T>A MANE Select | ENSP00000262916.6:p.Leu48Gln | |
| ENST00000347132.9:c.143T>A | ENSP00000262916.6:p.Leu48Gln | |
| ENST00000509682.6:c.143T>A | ENSP00000423756.2:p.Leu48Gln | |
| NM_004700.3:c.143T>A | NP_004691.2:p.Leu48Gln | |
| NM_172163.2:c.143T>A | NP_751895.1:p.Leu48Gln | |
| XM_011542417.1:c.143T>A | XP_011540719.1:p.Leu48Gln | |
| XM_011542418.1:c.143T>A | XP_011540720.1:p.Leu48Gln | |
| XM_011542419.1:c.143T>A | XP_011540721.1:p.Leu48Gln | |
| XM_011542420.1:c.143T>A | XP_011540722.1:p.Leu48Gln | |
| XR_946798.1:n.149T>A | ||
| XR_946799.1:n.149T>A | ||
| XR_946800.1:n.149T>A | ||
| NM_004700.4:c.143T>A MANE Select | NP_004691.2:p.Leu48Gln | |
| NM_172163.3:c.143T>A | NP_751895.1:p.Leu48Gln |