Linked Data
ClinVar Variation Id:
428739
dbSNP Id:
rs753350745
ExAC:
13:48947593 G / A
gnomAD v2:
13-48947593-G-A
gnomAD v4:
13-48373457-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48373457G>A , CM000675.2:g.48373457G>A | GRCh38 |
| NC_000013.10:g.48947593G>A , CM000675.1:g.48947593G>A | GRCh37 |
| NC_000013.9:g.47845594G>A | NCBI36 |
| NG_009009.1:g.74711G>A , LRG_517:g.74711G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1180G>A MANE Select | ENSP00000267163.4:p.Asp394Asn | |
| ENST00000650461.1:c.1180G>A | ENSP00000497193.1:p.Asp394Asn | |
| ENST00000267163.4:c.1180G>A | ENSP00000267163.4:p.Asp394Asn | |
| NM_000321.2:c.1180G>A , LRG_517t1:c.1180G>A | NP_000312.2:p.Asp394Asn | |
| XM_011535171.1:c.919G>A | XP_011533473.1:p.Asp307Asn | |
| XM_011535171.2:c.919G>A | XP_011533473.1:p.Asp307Asn | |
| XR_002957522.1:n.121+703C>T | ||
| NM_000321.3:c.1180G>A MANE Select | NP_000312.2:p.Asp394Asn |