Linked Data
ClinVar Variation Id:
402446
dbSNP Id:
rs6690037
ExAC:
1:207263829 A / G
gnomAD v2:
1-207263829-A-G
gnomAD v3:
1-207090484-A-G
gnomAD v4:
1-207090484-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207090484A>G , CM000663.2:g.207090484A>G | GRCh38 |
| NC_000001.10:g.207263829A>G , CM000663.1:g.207263829A>G | GRCh37 |
| NC_000001.9:g.205330452A>G | NCBI36 |
| NG_029386.1:g.6618A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367078.8:c.232+3A>G MANE Select | ENSP00000356045.3:n.232+3A>G | |
| ENST00000243611.9:c.232+3A>G | ENSP00000243611.5:n.232+3A>G | |
| ENST00000367076.7:c.229+3A>G | ENSP00000356043.3:n.229+3A>G | |
| ENST00000367078.7:c.232+3A>G | ENSP00000356045.3:n.232+3A>G | |
| ENST00000391923.1:c.232+3A>G | ENSP00000375790.1:n.232+3A>G | |
| ENST00000452902.6:c.232+3A>G | ENSP00000392237.1:n.232+3A>G | |
| ENST00000492730.1:n.335+3A>G | ||
| NM_000716.3:c.232+3A>G | NP_000707.1:n.232+3A>G | |
| NM_001017364.1:c.229+3A>G | NP_001017364.1:n.229+3A>G | |
| NM_001017365.1:c.232+3A>G | NP_001017365.1:n.232+3A>G | |
| NM_001017365.2:c.232+3A>G | NP_001017365.1:n.232+3A>G | |
| NM_001017366.1:c.229+3A>G | NP_001017366.1:n.229+3A>G | |
| NM_001017366.2:c.229+3A>G | NP_001017366.1:n.229+3A>G | |
| NM_001017367.1:c.232+3A>G | NP_001017367.1:n.232+3A>G | |
| XM_005273253.3:c.232+3A>G | XP_005273310.1:n.232+3A>G | |
| XM_005273254.3:c.232+3A>G | XP_005273311.1:n.232+3A>G | |
| XM_005273255.2:c.229+3A>G | XP_005273312.1:n.229+3A>G | |
| XM_005273254.5:c.232+3A>G | XP_005273311.1:n.232+3A>G | |
| XM_024449464.1:c.229+3A>G | XP_024305232.1:n.229+3A>G | |
| NM_001017365.3:c.232+3A>G MANE Select | NP_001017365.1:n.232+3A>G | |
| NM_001017366.3:c.229+3A>G | NP_001017366.1:n.229+3A>G |