Linked Data
ClinVar Variation Id:
2228575
ClinVar RCV Id:
RCV002707776
dbSNP Id:
rs1033444151
gnomAD v3:
2-222624742-C-T
gnomAD v4:
2-222624742-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222624742C>T , CM000664.2:g.222624742C>T | GRCh38 |
| NC_000002.11:g.223489461C>T , CM000664.1:g.223489461C>T | GRCh37 |
| NC_000002.10:g.223197705C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281828.8:c.934G>A MANE Select | ENSP00000281828.6:p.Asp312Asn | |
| ENST00000281828.6:c.934G>A | ENSP00000281828.6:p.Asp312Asn | |
| NM_005687.4:c.934G>A | NP_005678.3:p.Asp312Asn | |
| NR_130154.1:n.1412G>A | ||
| XM_006712169.1:c.637G>A | XP_006712232.1:p.Asp213Asn | |
| XM_006712170.1:c.637G>A | XP_006712233.1:p.Asp213Asn | |
| XM_011510466.1:c.637G>A | XP_011508768.1:p.Asp213Asn | |
| XM_006712169.2:c.637G>A | XP_006712232.1:p.Asp213Asn | |
| XM_011510466.2:c.637G>A | XP_011508768.1:p.Asp213Asn | |
| XM_017003110.2:c.637G>A | XP_016858599.1:p.Asp213Asn | |
| XM_024452492.1:c.637G>A | XP_024308260.1:p.Asp213Asn | |
| NM_005687.5:c.934G>A MANE Select | NP_005678.3:p.Asp312Asn | |
| NR_130154.2:n.1149G>A |