Linked Data
ClinVar Variation Id:
579628
ClinVar RCV Id:
RCV000702965
dbSNP Id:
rs776964609
ExAC:
19:39056202 G / C
gnomAD v2:
19-39056202-G-C
gnomAD v4:
19-38565562-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565562G>C , CM000681.2:g.38565562G>C | GRCh38 |
| NC_000019.9:g.39056202G>C , CM000681.1:g.39056202G>C | GRCh37 |
| NC_000019.8:g.43748042G>C | NCBI36 |
| NG_008866.1:g.136863G>C , LRG_766:g.136863G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.164G>C | ||
| ENST00000688602.1:c.1638G>C | ||
| ENST00000689936.1:c.1620G>C | ||
| ENST00000359596.8:c.13228G>C MANE Select | ENSP00000352608.2:p.Glu4410Gln | |
| ENST00000355481.8:c.13213G>C | ENSP00000347667.3:p.Glu4405Gln | |
| ENST00000359596.7:c.13228G>C | ENSP00000352608.2:p.Glu4410Gln | |
| ENST00000360985.7:c.13210G>C | ENSP00000354254.4:p.Glu4404Gln | |
| NM_000540.2:c.13228G>C , LRG_766t1:c.13228G>C | NP_000531.2:p.Glu4410Gln | |
| NM_001042723.1:c.13213G>C | NP_001036188.1:p.Glu4405Gln | |
| XM_006723317.1:c.13210G>C | XP_006723380.1:p.Glu4404Gln | |
| XM_006723319.1:c.13195G>C | XP_006723382.1:p.Glu4399Gln | |
| XM_011527204.1:c.13225G>C | XP_011525506.1:p.Glu4409Gln | |
| XM_011527205.1:c.13228G>C | XP_011525507.1:p.Glu4410Gln | |
| XM_006723317.2:c.13210G>C | XP_006723380.1:p.Glu4404Gln | |
| XM_006723319.2:c.13195G>C | XP_006723382.1:p.Glu4399Gln | |
| XM_011527205.2:c.13228G>C | XP_011525507.1:p.Glu4410Gln | |
| NM_000540.3:c.13228G>C MANE Select | NP_000531.2:p.Glu4410Gln | |
| NM_001042723.2:c.13213G>C | NP_001036188.1:p.Glu4405Gln |