Linked Data
ClinVar Variation Id:
1141609
ClinVar RCV Id:
RCV001479105
dbSNP Id:
rs777078287
ExAC:
9:130698926 G / A
gnomAD v2:
9-130698926-G-A
gnomAD v3:
9-127936647-G-A
gnomAD v4:
9-127936647-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127936647G>A , CM000671.2:g.127936647G>A | GRCh38 |
| NC_000009.11:g.130698926G>A , CM000671.1:g.130698926G>A | GRCh37 |
| NC_000009.10:g.129738747G>A | NCBI36 |
| NG_032927.1:g.6838C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314392.13:c.102C>T MANE Select | ENSP00000322181.8:p.Ile34= | |
| ENST00000314392.12:c.102C>T | ENSP00000322181.8:p.Ile34= | |
| ENST00000373110.4:c.102C>T | ENSP00000362202.4:p.Ile34= | |
| ENST00000470181.1:n.394C>T | ||
| ENST00000473360.1:n.346+787C>T | ||
| ENST00000495270.1:n.886C>T | ||
| NM_003863.3:c.102C>T | NP_003854.1:p.Ile34= | |
| NM_003863.4:c.102C>T MANE Select | NP_003854.1:p.Ile34= | |
| NM_001378437.1:c.12C>T | NP_001365366.1:p.Ile4= | |
| NR_165631.1:n.259C>T | ||
| NR_165632.1:n.38-867C>T |