Linked Data
ClinVar Variation Id:
657557
dbSNP Id:
rs757818801
gnomAD v2:
13-49050936-A-C
gnomAD v3:
13-48476800-A-C
gnomAD v4:
13-48476800-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48476800A>C , CM000675.2:g.48476800A>C | GRCh38 |
| NC_000013.10:g.49050936A>C , CM000675.1:g.49050936A>C | GRCh37 |
| NC_000013.9:g.47948937A>C | NCBI36 |
| NG_009009.1:g.178054A>C , LRG_517:g.178054A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2620A>C MANE Select | ENSP00000267163.4:p.Lys874Gln | |
| ENST00000643064.1:c.194+95357A>C | ||
| ENST00000650461.1:c.2620A>C | ENSP00000497193.1:p.Lys874Gln | |
| ENST00000267163.4:c.2620A>C | ENSP00000267163.4:p.Lys874Gln | |
| ENST00000484879.1:n.354A>C | ||
| ENST00000531171.5:n.223A>C | ||
| NM_000321.2:c.2620A>C , LRG_517t1:c.2620A>C | NP_000312.2:p.Lys874Gln | |
| XM_011535171.1:c.2359A>C | XP_011533473.1:p.Lys787Gln | |
| XM_011535171.2:c.2359A>C | XP_011533473.1:p.Lys787Gln | |
| NM_000321.3:c.2620A>C MANE Select | NP_000312.2:p.Lys874Gln |