Linked Data
ClinVar Variation Id:
434230
dbSNP Id:
rs143027953
ExAC:
15:51201017 A / G
gnomAD v2:
15-51201017-A-G
gnomAD v3:
15-50908820-A-G
gnomAD v4:
15-50908820-A-G
MyVariant Identifiers:
chr15:g.51201017A>G (hg19)
chr15:g.51201017_51201019delinsGCT (hg19)
chr15:g.50908820A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50908820A>G , CM000677.2:g.50908820A>G | GRCh38 |
| NC_000015.9:g.51201017A>G , CM000677.1:g.51201017A>G | GRCh37 |
| NC_000015.8:g.48988309A>G | NCBI36 |
| NG_031875.1:g.5149A>G | |
| NG_031875.2:g.5149A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261842.10:c.42A>G MANE Select | ENSP00000261842.5:p.Gly14= | |
| ENST00000261842.9:c.42A>G | ENSP00000261842.5:p.Gly14= | |
| ENST00000558439.5:c.42A>G | ENSP00000452712.1:p.Gly14= | |
| ENST00000560508.1:c.-207A>G | ENSP00000452976.1:n.-207A>G | |
| ENST00000561393.5:c.-207A>G | ENSP00000452711.1:n.-207A>G | |
| ENST00000561441.5:c.42A>G | ENSP00000453112.1:p.Gly14= | |
| NM_001252127.1:c.-207A>G | NP_001239056.1:n.-207A>G | |
| NM_007347.4:c.42A>G | NP_031373.2:p.Gly14= | |
| XM_005254264.2:c.-76+177A>G | XP_005254321.1:n.-76+177A>G | |
| XM_011521409.1:c.-1399A>G | XP_011519711.1:n.-1399A>G | |
| XM_005254264.4:c.-76+177A>G | XP_005254321.1:n.-76+177A>G | |
| XM_017022042.2:c.-929A>G | XP_016877531.1:n.-929A>G | |
| XR_001751183.1:n.149A>G | ||
| XR_001751184.1:n.149A>G | ||
| XR_001751185.1:n.149A>G | ||
| NM_007347.5:c.42A>G MANE Select | NP_031373.2:p.Gly14= | |
| NM_001252127.2:c.-207A>G | NP_001239056.1:n.-207A>G |