Linked Data
ClinVar Variation Id:
1038115
dbSNP Id:
rs371953926
ExAC:
19:39068794 A / G
gnomAD v2:
19-39068794-A-G
gnomAD v3:
19-38578154-A-G
gnomAD v4:
19-38578154-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38578154A>G , CM000681.2:g.38578154A>G | GRCh38 |
| NC_000019.9:g.39068794A>G , CM000681.1:g.39068794A>G | GRCh37 |
| NC_000019.8:g.43760634A>G | NCBI36 |
| NG_008866.1:g.149455A>G , LRG_766:g.149455A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1250A>G | ||
| ENST00000688602.1:c.2647A>G | ||
| ENST00000689936.1:c.2619A>G | ||
| ENST00000359596.8:c.14314A>G MANE Select | ENSP00000352608.2:p.Ile4772Val | |
| ENST00000355481.8:c.14299A>G | ENSP00000347667.3:p.Ile4767Val | |
| ENST00000359596.7:c.14314A>G | ENSP00000352608.2:p.Ile4772Val | |
| ENST00000360985.7:c.14296A>G | ENSP00000354254.4:p.Ile4766Val | |
| NM_000540.2:c.14314A>G , LRG_766t1:c.14314A>G | NP_000531.2:p.Ile4772Val | |
| NM_001042723.1:c.14299A>G | NP_001036188.1:p.Ile4767Val | |
| XM_006723317.1:c.14296A>G | XP_006723380.1:p.Ile4766Val | |
| XM_006723319.1:c.14281A>G | XP_006723382.1:p.Ile4761Val | |
| XM_011527204.1:c.14311A>G | XP_011525506.1:p.Ile4771Val | |
| XM_011527205.1:c.14227A>G | XP_011525507.1:p.Ile4743Val | |
| XM_006723317.2:c.14296A>G | XP_006723380.1:p.Ile4766Val | |
| XM_006723319.2:c.14281A>G | XP_006723382.1:p.Ile4761Val | |
| XM_011527205.2:c.14227A>G | XP_011525507.1:p.Ile4743Val | |
| NM_000540.3:c.14314A>G MANE Select | NP_000531.2:p.Ile4772Val | |
| NM_001042723.2:c.14299A>G | NP_001036188.1:p.Ile4767Val |