Linked Data
ClinVar Variation Id:
389597
ClinVar RCV Id:
RCV000444723
dbSNP Id:
rs558788270
gnomAD v2:
3-10183503-C-A
gnomAD v3:
3-10141819-C-A
gnomAD v4:
3-10141819-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141819C>A , CM000665.2:g.10141819C>A | GRCh38 |
| NC_000003.11:g.10183503C>A , CM000665.1:g.10183503C>A | GRCh37 |
| NC_000003.10:g.10158503C>A | NCBI36 |
| NG_008212.3:g.5185C>A , LRG_322:g.5185C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.-29C>A | ENSP00000512434.1:n.-29C>A | |
| ENST00000696153.1:c.-29C>A | ENSP00000512444.1:n.-29C>A | |
| ENST00000256474.3:c.-29C>A MANE Select | ENSP00000256474.3:n.-29C>A | |
| ENST00000256474.2:c.-29C>A | ENSP00000256474.2:n.-29C>A | |
| ENST00000345392.2:c.-29C>A | ENSP00000344757.2:n.-29C>A | |
| NM_000551.3:c.-29C>A , LRG_322t1:c.-29C>A | NP_000542.1:n.-29C>A | |
| NM_198156.2:c.-29C>A | NP_937799.1:n.-29C>A | |
| XM_011534078.1:c.-29C>A | XP_011532380.1:n.-29C>A | |
| NM_001354723.1:c.-29C>A | NP_001341652.1:n.-29C>A | |
| NM_000551.4:c.-29C>A MANE Select | NP_000542.1:n.-29C>A | |
| NM_001354723.2:c.-29C>A | NP_001341652.1:n.-29C>A | |
| NM_198156.3:c.-29C>A | NP_937799.1:n.-29C>A |