Linked Data
ClinVar Variation Id:
1630290
ClinVar RCV Id:
RCV002121075
dbSNP Id:
rs1382253641
gnomAD v2:
5-39306806-C-T
gnomAD v3:
5-39306704-C-T
gnomAD v4:
5-39306704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.39306704C>T , CM000667.2:g.39306704C>T | GRCh38 |
| NC_000005.9:g.39306806C>T , CM000667.1:g.39306806C>T | GRCh37 |
| NC_000005.8:g.39342563C>T | NCBI36 |
| NG_009894.1:g.62850G>A , LRG_32:g.62850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509186.6:c.1257G>A | ENSP00000512235.1:p.Lys419= | |
| ENST00000695880.1:c.1200G>A | ENSP00000512236.1:p.Lys400= | |
| ENST00000695881.1:c.1329G>A | ENSP00000512237.1:p.Lys443= | |
| ENST00000695882.1:n.556G>A | ||
| ENST00000263408.5:c.1329G>A MANE Select | ENSP00000263408.4:p.Lys443= | |
| ENST00000263408.4:c.1329G>A | ENSP00000263408.4:p.Lys443= | |
| NM_001737.3:c.1329G>A , LRG_32t1:c.1329G>A | NP_001728.1:p.Lys443= | |
| NM_001737.4:c.1329G>A | NP_001728.1:p.Lys443= | |
| NM_001737.5:c.1329G>A MANE Select | NP_001728.1:p.Lys443= |