Linked Data
ClinVar Variation Id:
527928
dbSNP Id:
rs1220347917
gnomAD v2:
13-48923104-A-C
gnomAD v4:
13-48348968-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48348968A>C , CM000675.2:g.48348968A>C | GRCh38 |
| NC_000013.10:g.48923104A>C , CM000675.1:g.48923104A>C | GRCh37 |
| NC_000013.9:g.47821105A>C | NCBI36 |
| NG_009009.1:g.50222A>C , LRG_517:g.50222A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.552A>C MANE Select | ENSP00000267163.4:p.Glu184Asp | |
| ENST00000650461.1:c.552A>C | ENSP00000497193.1:p.Glu184Asp | |
| ENST00000267163.4:c.552A>C | ENSP00000267163.4:p.Glu184Asp | |
| ENST00000467505.5:c.138-11049A>C | ENSP00000434702.1:n.138-11049A>C | |
| ENST00000525036.1:n.714A>C | ||
| NM_000321.2:c.552A>C , LRG_517t1:c.552A>C | NP_000312.2:p.Glu184Asp | |
| XM_011535171.1:c.291A>C | XP_011533473.1:p.Glu97Asp | |
| XM_011535171.2:c.291A>C | XP_011533473.1:p.Glu97Asp | |
| NM_000321.3:c.552A>C MANE Select | NP_000312.2:p.Glu184Asp |