Linked Data
ClinVar Variation Id:
185246
dbSNP Id:
rs786202029
ExAC:
16:23652439 T / C
gnomAD v2:
16-23652439-T-C
gnomAD v3:
16-23641118-T-C
gnomAD v4:
16-23641118-T-C
MyVariant Identifiers:
chr16:g.23652439T>C (hg19)
chr16:g.23652439_23652442delinsCCTC (hg19)
chr16:g.23641118T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641118T>C , CM000678.2:g.23641118T>C | GRCh38 |
| NC_000016.9:g.23652439T>C , CM000678.1:g.23652439T>C | GRCh37 |
| NC_000016.8:g.23559940T>C | NCBI36 |
| NG_007406.1:g.5240A>G , LRG_308:g.5240A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.-813A>G | ENSP00000460666.3:n.-813A>G | |
| ENST00000565038.2:c.40A>G | ENSP00000459882.2:p.Lys14Glu | |
| ENST00000566069.6:c.40A>G | ENSP00000459237.2:p.Lys14Glu | |
| ENST00000697377.2:c.-200A>G | ENSP00000513286.2:n.-200A>G | |
| ENST00000697379.2:c.-106A>G | ENSP00000513287.2:n.-106A>G | |
| ENST00000561514.2:c.-1704A>G | ENSP00000460666.2:n.-1704A>G | |
| ENST00000697374.1:c.-1295A>G | ENSP00000513284.1:n.-1295A>G | |
| ENST00000697376.1:c.-1016A>G | ENSP00000513285.1:n.-1016A>G | |
| ENST00000697377.1:c.-1091A>G | ENSP00000513286.1:n.-1091A>G | |
| ENST00000697379.1:c.-997A>G | ENSP00000513287.1:n.-997A>G | |
| ENST00000697382.1:c.-1755A>G | ENSP00000513288.1:n.-1755A>G | |
| ENST00000697383.1:c.40A>G | ENSP00000513289.1:p.Lys14Glu | |
| ENST00000697384.1:n.194A>G | ||
| ENST00000261584.9:c.40A>G MANE Select | ENSP00000261584.4:p.Lys14Glu | |
| ENST00000261584.8:c.40A>G | ENSP00000261584.4:p.Lys14Glu | |
| ENST00000567003.1:n.184A>G | ||
| ENST00000568219.5:c.-838+9A>G | ENSP00000454703.2:n.-838+9A>G | |
| NM_024675.3:c.40A>G , LRG_308t1:c.40A>G | NP_078951.2:p.Lys14Glu | |
| XM_011545948.1:c.-980A>G | XP_011544250.1:n.-980A>G | |
| XM_011545946.2:c.-813A>G | XP_011544248.1:n.-813A>G | |
| XM_011545947.2:c.-813A>G | XP_011544249.1:n.-813A>G | |
| XM_011545948.2:c.-980A>G | XP_011544250.1:n.-980A>G | |
| XM_017023671.1:c.-813A>G | XP_016879160.1:n.-813A>G | |
| XM_017023672.2:c.40A>G | XP_016879161.1:p.Lys14Glu | |
| XM_017023673.2:c.40A>G | XP_016879162.1:p.Lys14Glu | |
| NM_024675.4:c.40A>G MANE Select | NP_078951.2:p.Lys14Glu |