Linked Data
ClinVar Variation Id:
8752
dbSNP Id:
rs137853157
ExAC:
15:48543967 G / A
gnomAD v2:
15-48543967-G-A
gnomAD v3:
15-48251770-G-A
gnomAD v4:
15-48251770-G-A
PubMed:
PMID:8640224
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48251770G>A , CM000677.2:g.48251770G>A | GRCh38 |
| NC_000015.9:g.48543967G>A , CM000677.1:g.48543967G>A | GRCh37 |
| NC_000015.8:g.46331259G>A | NCBI36 |
| NG_021301.1:g.50470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686073.1:c.1942G>A | ENSP00000508901.1:p.Asp648Asn | |
| ENST00000380993.8:c.1942G>A MANE Select | ENSP00000370381.3:p.Asp648Asn | |
| ENST00000646012.1:c.2080G>A | ENSP00000495813.1:p.Asp694Asn | |
| ENST00000647232.1:c.1942G>A | ENSP00000493875.1:p.Asp648Asn | |
| ENST00000647546.1:c.1942G>A | ENSP00000495332.1:p.Asp648Asn | |
| ENST00000380993.7:c.1942G>A | ENSP00000370381.3:p.Asp648Asn | |
| ENST00000396577.7:c.1942G>A | ENSP00000379822.3:p.Asp648Asn | |
| ENST00000558252.5:n.6065G>A | ||
| ENST00000558405.5:c.1942G>A | ENSP00000453409.1:p.Asp648Asn | |
| ENST00000559641.5:c.1381G>A | ENSP00000453230.1:p.Asp461Asn | |
| ENST00000560692.5:n.6081G>A | ||
| NM_000338.2:c.1942G>A | NP_000329.2:p.Asp648Asn | |
| NM_001184832.1:c.1942G>A | NP_001171761.1:p.Asp648Asn | |
| XM_005254605.1:c.2038G>A | XP_005254662.1:p.Asp680Asn | |
| XM_005254606.1:c.1942G>A | XP_005254663.1:p.Asp648Asn | |
| XM_006720656.1:c.2038G>A | XP_006720719.1:p.Asp680Asn | |
| XR_931896.1:n.2254G>A | ||
| XM_005254606.2:c.1942G>A | XP_005254663.1:p.Asp648Asn | |
| NM_000338.3:c.1942G>A MANE Select | NP_000329.2:p.Asp648Asn | |
| NM_001184832.2:c.1942G>A | NP_001171761.1:p.Asp648Asn | |
| NM_001384136.1:c.1942G>A | NP_001371065.1:p.Asp648Asn |