Linked Data
ClinVar Variation Id:
1419955
ClinVar RCV Id:
RCV001910745
dbSNP Id:
rs942942261
gnomAD v2:
19-39056204-G-C
gnomAD v3:
19-38565564-G-C
gnomAD v4:
19-38565564-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565564G>C , CM000681.2:g.38565564G>C | GRCh38 |
| NC_000019.9:g.39056204G>C , CM000681.1:g.39056204G>C | GRCh37 |
| NC_000019.8:g.43748044G>C | NCBI36 |
| NG_008866.1:g.136865G>C , LRG_766:g.136865G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.166G>C | ||
| ENST00000688602.1:c.1640G>C | ||
| ENST00000689936.1:c.1622G>C | ||
| ENST00000359596.8:c.13230G>C MANE Select | ENSP00000352608.2:p.Glu4410Asp | |
| ENST00000355481.8:c.13215G>C | ENSP00000347667.3:p.Glu4405Asp | |
| ENST00000359596.7:c.13230G>C | ENSP00000352608.2:p.Glu4410Asp | |
| ENST00000360985.7:c.13212G>C | ENSP00000354254.4:p.Glu4404Asp | |
| NM_000540.2:c.13230G>C , LRG_766t1:c.13230G>C | NP_000531.2:p.Glu4410Asp | |
| NM_001042723.1:c.13215G>C | NP_001036188.1:p.Glu4405Asp | |
| XM_006723317.1:c.13212G>C | XP_006723380.1:p.Glu4404Asp | |
| XM_006723319.1:c.13197G>C | XP_006723382.1:p.Glu4399Asp | |
| XM_011527204.1:c.13227G>C | XP_011525506.1:p.Glu4409Asp | |
| XM_011527205.1:c.13230G>C | XP_011525507.1:p.Glu4410Asp | |
| XM_006723317.2:c.13212G>C | XP_006723380.1:p.Glu4404Asp | |
| XM_006723319.2:c.13197G>C | XP_006723382.1:p.Glu4399Asp | |
| XM_011527205.2:c.13230G>C | XP_011525507.1:p.Glu4410Asp | |
| NM_000540.3:c.13230G>C MANE Select | NP_000531.2:p.Glu4410Asp | |
| NM_001042723.2:c.13215G>C | NP_001036188.1:p.Glu4405Asp |