Linked Data
ClinVar Variation Id:
380393
ClinVar RCV Id:
RCV001720053
dbSNP Id:
rs990089169
gnomAD v2:
9-101867439-C-G
gnomAD v3:
9-99105157-C-G
gnomAD v4:
9-99105157-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99105157C>G , CM000671.2:g.99105157C>G | GRCh38 |
| NC_000009.11:g.101867439C>G , CM000671.1:g.101867439C>G | GRCh37 |
| NC_000009.10:g.100907260C>G | NCBI36 |
| NG_007461.1:g.5028C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547314.6:c.-111+1051C>G | ENSP00000449934.2:n.-111+1051C>G | |
| ENST00000552573.7:c.-111+1051C>G | ENSP00000447182.3:n.-111+1051C>G | |
| ENST00000698941.1:c.-111+32C>G | ENSP00000514048.1:n.-111+32C>G | |
| ENST00000374994.9:c.-49C>G MANE Select | ENSP00000364133.4:n.-49C>G | |
| ENST00000374990.6:c.-49C>G | ENSP00000364129.2:n.-49C>G | |
| ENST00000374994.8:c.-49C>G | ENSP00000364133.4:n.-49C>G | |
| ENST00000547314.5:c.-111+1051C>G | ENSP00000449934.1:n.-111+1051C>G | |
| ENST00000549766.5:c.-49C>G | ENSP00000446685.1:n.-49C>G | |
| ENST00000552516.5:c.-49C>G | ENSP00000447297.1:n.-49C>G | |
| ENST00000552573.6:c.-111+1051C>G | ENSP00000447182.2:n.-111+1051C>G | |
| NM_001130916.1:c.-49C>G | NP_001124388.1:n.-49C>G | |
| NM_001130916.2:c.-49C>G | NP_001124388.1:n.-49C>G | |
| NM_001306210.1:c.-49C>G | NP_001293139.1:n.-49C>G | |
| NM_004612.2:c.-49C>G | NP_004603.1:n.-49C>G | |
| NM_004612.3:c.-49C>G | NP_004603.1:n.-49C>G | |
| XM_011518949.1:c.-111+1051C>G | XP_011517251.1:n.-111+1051C>G | |
| XM_011518949.2:c.-111+1051C>G | XP_011517251.1:n.-111+1051C>G | |
| XM_017015063.1:c.-111+32C>G | XP_016870552.1:n.-111+32C>G | |
| NM_004612.4:c.-49C>G MANE Select | NP_004603.1:n.-49C>G | |
| NM_001130916.3:c.-49C>G | NP_001124388.1:n.-49C>G | |
| NM_001306210.2:c.-49C>G | NP_001293139.1:n.-49C>G |