Linked Data
ClinVar Variation Id:
458167
dbSNP Id:
rs149800437
ExAC:
13:48916837 A / G
gnomAD v2:
13-48916837-A-G
gnomAD v3:
13-48342701-A-G
gnomAD v4:
13-48342701-A-G
COSMIC:
COSM927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48342701A>G , CM000675.2:g.48342701A>G | GRCh38 |
| NC_000013.10:g.48916837A>G , CM000675.1:g.48916837A>G | GRCh37 |
| NC_000013.9:g.47814838A>G | NCBI36 |
| NG_009009.1:g.43955A>G , LRG_517:g.43955A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.367A>G MANE Select | ENSP00000267163.4:p.Asn123Asp | |
| ENST00000650461.1:c.367A>G | ENSP00000497193.1:p.Asn123Asp | |
| ENST00000267163.4:c.367A>G | ENSP00000267163.4:p.Asn123Asp | |
| ENST00000467505.5:c.138-17316A>G | ENSP00000434702.1:n.138-17316A>G | |
| ENST00000525036.1:n.529A>G | ||
| NM_000321.2:c.367A>G , LRG_517t1:c.367A>G | NP_000312.2:p.Asn123Asp | |
| XM_011535171.1:c.106A>G | XP_011533473.1:p.Asn36Asp | |
| XM_011535171.2:c.106A>G | XP_011533473.1:p.Asn36Asp | |
| NM_000321.3:c.367A>G MANE Select | NP_000312.2:p.Asn123Asp |