Linked Data
ClinVar Variation Id:
12073
ClinVar RCV Id:
RCV000012854
dbSNP Id:
rs121964932
gnomAD v2:
13-113768193-A-G
gnomAD v4:
13-113113879-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113113879A>G , CM000675.2:g.113113879A>G | GRCh38 |
| NC_000013.10:g.113768193A>G , CM000675.1:g.113768193A>G | GRCh37 |
| NC_000013.9:g.112816194A>G | NCBI36 |
| NG_009262.1:g.13089A>G , LRG_554:g.13089A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346342.8:c.283A>G MANE Select | ENSP00000329546.4:p.Asn95Asp | |
| ENST00000346342.7:c.283A>G | ENSP00000329546.3:p.Asn95Asp | |
| ENST00000375581.3:c.349A>G | ENSP00000364731.3:p.Asn117Asp | |
| ENST00000444337.1:c.*91A>G | ENSP00000387669.1:n.*91A>G | |
| ENST00000473085.1:n.230A>G | ||
| ENST00000479674.1:n.616A>G | ||
| ENST00000541084.5:c.97A>G | ENSP00000442051.2:p.Asn33Asp | |
| NM_000131.4:c.349A>G , LRG_554t1:c.349A>G | NP_000122.1:p.Asn117Asp | |
| NM_001267554.1:c.97A>G | NP_001254483.1:p.Asn33Asp | |
| NM_019616.3:c.283A>G , LRG_554t2:c.283A>G | NP_062562.1:p.Asn95Asp | |
| NR_051961.1:n.370A>G | ||
| XM_006719963.2:c.283A>G | XP_006720026.1:p.Asn95Asp | |
| XM_011537474.1:c.283A>G | XP_011535776.1:p.Asn95Asp | |
| XM_011537475.1:c.97A>G | XP_011535777.1:p.Asn33Asp | |
| XM_011537477.1:c.244A>G | XP_011535779.1:p.Asn82Asp | |
| XM_006719963.3:c.328A>G | XP_006720026.2:p.Asn110Asp | |
| XM_011537474.2:c.328A>G | XP_011535776.2:p.Asn110Asp | |
| XM_011537475.2:c.142A>G | XP_011535777.2:p.Asn48Asp | |
| NM_019616.4:c.283A>G MANE Select | NP_062562.1:p.Asn95Asp | |
| NR_051961.2:n.367A>G | ||
| NM_001267554.2:c.97A>G | NP_001254483.1:p.Asn33Asp |