Linked Data
dbSNP Id:
rs1398050393
gnomAD v2:
3-133494279-A-C
gnomAD v3:
3-133775435-A-C
gnomAD v4:
3-133775435-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133775435A>C , CM000665.2:g.133775435A>C | GRCh38 |
| NC_000003.11:g.133494279A>C , CM000665.1:g.133494279A>C | GRCh37 |
| NC_000003.10:g.134976969A>C | NCBI36 |
| NG_013080.1:g.34303A>C | |
| NG_013080.2:g.118438A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.1690A>C MANE Select | ENSP00000385834.3:p.Lys564Gln | |
| ENST00000402696.7:c.1690A>C | ENSP00000385834.3:p.Lys564Gln | |
| ENST00000461695.1:c.421A>C | ||
| ENST00000467842.1:n.2684A>C | ||
| NM_001063.3:c.1690A>C | NP_001054.1:p.Lys564Gln | |
| XM_011513100.1:c.1690A>C | XP_011511402.1:p.Lys564Gln | |
| NM_001354703.1:c.1558A>C | NP_001341632.1:p.Lys520Gln | |
| NM_001354704.1:c.1309A>C | NP_001341633.1:p.Lys437Gln | |
| NM_001063.4:c.1690A>C MANE Select | NP_001054.2:p.Lys564Gln | |
| NM_001354703.2:c.1558A>C | NP_001341632.2:p.Lys520Gln | |
| NM_001354704.2:c.1309A>C | NP_001341633.2:p.Lys437Gln |