Linked Data
ClinVar Variation Id:
2477744
ClinVar RCV Id:
RCV004271441
dbSNP Id:
rs1007985613
gnomAD v2:
21-27102006-T-C
gnomAD v3:
21-25729695-T-C
gnomAD v4:
21-25729695-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25729695T>C , CM000683.2:g.25729695T>C | GRCh38 |
| NC_000021.8:g.27102006T>C , CM000683.1:g.27102006T>C | GRCh37 |
| NC_000021.7:g.26023877T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284971.8:c.100A>G MANE Select | ENSP00000284971.3:p.Lys34Glu | |
| ENST00000284971.7:c.100A>G | ENSP00000284971.3:p.Lys34Glu | |
| ENST00000400087.7:c.100A>G | ENSP00000382959.3:p.Lys34Glu | |
| ENST00000400090.7:c.100A>G | ENSP00000382962.3:p.Lys34Glu | |
| ENST00000400093.3:c.100A>G | ENSP00000382965.3:p.Lys34Glu | |
| ENST00000400094.5:c.100A>G | ENSP00000382966.1:p.Lys34Glu | |
| ENST00000400099.5:c.100A>G | ENSP00000382971.1:p.Lys34Glu | |
| ENST00000457143.6:c.124A>G | ENSP00000389649.2:p.Lys42Glu | |
| ENST00000486002.1:n.159A>G | ||
| NM_001003696.1:c.100A>G | NP_001003696.1:p.Lys34Glu | |
| NM_001003697.1:c.100A>G | NP_001003697.1:p.Lys34Glu | |
| NM_001003701.1:c.124A>G | NP_001003701.1:p.Lys42Glu | |
| NM_001003703.1:c.100A>G | NP_001003703.1:p.Lys34Glu | |
| NM_001685.4:c.100A>G | NP_001676.2:p.Lys34Glu | |
| XM_005260992.3:c.100A>G | XP_005261049.1:p.Lys34Glu | |
| NM_001320266.1:c.100A>G | NP_001307195.1:p.Lys34Glu | |
| NM_001320267.1:c.100A>G | NP_001307196.1:p.Lys34Glu | |
| NM_001003696.2:c.100A>G | NP_001003696.1:p.Lys34Glu | |
| NM_001003697.2:c.100A>G | NP_001003697.1:p.Lys34Glu | |
| NM_001003701.2:c.124A>G | NP_001003701.1:p.Lys42Glu | |
| NM_001003703.2:c.100A>G MANE Select | NP_001003703.1:p.Lys34Glu | |
| NM_001320266.2:c.100A>G | NP_001307195.1:p.Lys34Glu | |
| NM_001320267.2:c.100A>G | NP_001307196.1:p.Lys34Glu | |
| NM_001685.5:c.100A>G | NP_001676.2:p.Lys34Glu |