Linked Data
ClinVar Variation Id:
381884
ClinVar RCV Id:
RCV000439838
dbSNP Id:
rs928399170
gnomAD v2:
3-39432011-C-A
gnomAD v3:
3-39390520-C-A
gnomAD v4:
3-39390520-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39390520C>A , CM000665.2:g.39390520C>A | GRCh38 |
| NC_000003.11:g.39432011C>A , CM000665.1:g.39432011C>A | GRCh37 |
| NC_000003.10:g.39407015C>A | NCBI36 |
| NG_016931.1:g.12197C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642683.1:c.228+61C>A | ENSP00000495376.1:n.228+61C>A | |
| ENST00000642978.1:c.258+13C>A | ENSP00000494342.1:n.258+13C>A | |
| ENST00000643672.1:c.225+13C>A | ENSP00000494532.1:n.225+13C>A | |
| ENST00000645280.1:c.222+13C>A | ENSP00000496690.1:n.222+13C>A | |
| ENST00000645630.1:c.276+13C>A | ENSP00000493714.1:n.276+13C>A | |
| ENST00000648579.1:c.276+13C>A | ENSP00000497638.1:n.276+13C>A | |
| ENST00000650617.1:c.276+13C>A MANE Select | ENSP00000497532.1:n.276+13C>A | |
| ENST00000273158.8:c.276+13C>A | ENSP00000273158.3:n.276+13C>A | |
| ENST00000431510.1:c.264+13C>A | ENSP00000394244.1:n.264+13C>A | |
| NM_017875.2:c.276+13C>A | NP_060345.2:n.276+13C>A | |
| XM_006713214.1:c.264+13C>A | XP_006713277.1:n.264+13C>A | |
| XM_011533869.1:c.258+13C>A | XP_011532171.1:n.258+13C>A | |
| XM_011533870.1:c.225+13C>A | XP_011532172.1:n.225+13C>A | |
| XM_011533871.1:c.276+13C>A | XP_011532173.1:n.276+13C>A | |
| NM_001354798.1:c.276+13C>A | NP_001341727.1:n.276+13C>A | |
| NM_017875.4:c.276+13C>A MANE Select | NP_060345.2:n.276+13C>A | |
| XM_006713214.2:c.264+13C>A | XP_006713277.1:n.264+13C>A | |
| XM_011533869.2:c.258+13C>A | XP_011532171.1:n.258+13C>A | |
| XM_024453611.1:c.222+13C>A | XP_024309379.1:n.222+13C>A | |
| NM_001354798.2:c.276+13C>A | NP_001341727.1:n.276+13C>A |