Linked Data
ClinVar Variation Id:
102451
ClinVar RCV Id:
RCV000088688
dbSNP Id:
rs149022328
ExAC:
19:56895752 C / T
gnomAD v2:
19-56895752-C-T
gnomAD v3:
19-56384383-C-T
gnomAD v4:
19-56384383-C-T
PubMed:
PMID:24123876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.56384383C>T , CM000681.2:g.56384383C>T | GRCh38 |
| NC_000019.9:g.56895752C>T , CM000681.1:g.56895752C>T | GRCh37 |
| NC_000019.8:g.61587564C>T | NCBI36 |
| NG_050571.1:g.14203G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586929.6:c.1034G>A MANE Select | ENSP00000465619.1:p.Gly345Glu | |
| ENST00000589895.2:c.232+5618G>A | ENSP00000465639.1:n.232+5618G>A | |
| ENST00000301310.8:c.1034G>A | ENSP00000301310.3:p.Gly345Glu | |
| ENST00000586929.5:c.1034G>A | ENSP00000465619.1:p.Gly345Glu | |
| ENST00000589143.5:c.232+5618G>A | ENSP00000468679.1:n.232+5618G>A | |
| ENST00000619584.4:c.1034G>A | ENSP00000483414.1:p.Gly345Glu | |
| NM_144690.1:c.1034G>A | NP_653291.1:p.Gly345Glu | |
| XM_006723044.2:c.1127G>A | XP_006723107.1:p.Gly376Glu | |
| XR_430188.2:n.1480G>A | ||
| XR_430189.2:n.1480G>A | ||
| NM_001320371.1:c.1127G>A | NP_001307300.1:p.Gly376Glu | |
| NM_144690.2:c.1034G>A | NP_653291.1:p.Gly345Glu | |
| XR_430188.3:n.1480G>A | ||
| NM_001320371.2:c.1127G>A | NP_001307300.1:p.Gly376Glu | |
| NM_144690.3:c.1034G>A | NP_653291.1:p.Gly345Glu | |
| NM_001320371.4:c.1034G>A MANE Select | NP_001307300.2:p.Gly345Glu |