Linked Data
ClinVar Variation Id:
56969
dbSNP Id:
rs397514715
ExAC:
13:37453700 T / C
gnomAD v2:
13-37453700-T-C
gnomAD v3:
13-36879563-T-C
gnomAD v4:
13-36879563-T-C
PubMed:
PMID:21898662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36879563T>C , CM000675.2:g.36879563T>C | GRCh38 |
| NC_000013.10:g.37453700T>C , CM000675.1:g.37453700T>C | GRCh37 |
| NC_000013.9:g.36351700T>C | NCBI36 |
| NG_016963.1:g.45710A>G , LRG_703:g.45710A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000483941.2:n.566A>G | ||
| ENST00000350148.10:c.127A>G | ENSP00000239885.6:p.Lys43Glu | |
| ENST00000379826.5:c.127A>G MANE Select | ENSP00000369154.4:p.Lys43Glu | |
| ENST00000399275.7:c.127A>G | ENSP00000382216.3:p.Lys43Glu | |
| ENST00000350148.9:c.127A>G | ENSP00000239885.6:p.Lys43Glu | |
| ENST00000379826.4:c.127A>G | ENSP00000369154.4:p.Lys43Glu | |
| ENST00000399275.6:c.127A>G | ENSP00000382216.2:p.Lys43Glu | |
| ENST00000483941.1:n.444A>G | ||
| NM_001127217.2:c.127A>G , LRG_703t1:c.127A>G | NP_001120689.1:p.Lys43Glu | |
| NM_005905.5:c.127A>G | NP_005896.1:p.Lys43Glu | |
| XM_005266401.2:c.127A>G | XP_005266458.1:p.Lys43Glu | |
| XM_005266403.2:c.127A>G | XP_005266460.1:p.Lys43Glu | |
| XM_005266404.2:c.127A>G | XP_005266461.1:p.Lys43Glu | |
| XM_006719827.2:c.127A>G | XP_006719890.1:p.Lys43Glu | |
| XM_011535096.1:c.127A>G | XP_011533398.1:p.Lys43Glu | |
| XM_005266401.3:c.127A>G | XP_005266458.1:p.Lys43Glu | |
| XM_005266403.3:c.127A>G | XP_005266460.1:p.Lys43Glu | |
| XM_005266404.3:c.127A>G | XP_005266461.1:p.Lys43Glu | |
| XM_006719827.3:c.127A>G | XP_006719890.1:p.Lys43Glu | |
| NM_001127217.3:c.127A>G MANE Select | NP_001120689.1:p.Lys43Glu | |
| NM_005905.6:c.127A>G | NP_005896.1:p.Lys43Glu | |
| NM_001378621.1:c.127A>G | NP_001365550.1:p.Lys43Glu |