Linked Data
ClinVar Variation Id:
390625
dbSNP Id:
rs372161255
ExAC:
14:92460265 A / C
gnomAD v2:
14-92460265-A-C
gnomAD v3:
14-91993921-A-C
gnomAD v4:
14-91993921-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91993921A>C , CM000676.2:g.91993921A>C | GRCh38 |
| NC_000014.8:g.92460265A>C , CM000676.1:g.92460265A>C | GRCh37 |
| NC_000014.7:g.91530018A>C | NCBI36 |
| NG_016970.1:g.51139T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.5057-9T>G MANE Select | ENSP00000267622.4:n.5057-9T>G | |
| ENST00000554357.5:c.4203-9T>G | ||
| ENST00000557017.1:c.305-9T>G | ENSP00000451607.1:n.305-9T>G | |
| NM_004239.3:c.5057-9T>G | NP_004230.2:n.5057-9T>G | |
| XM_005268214.2:c.3731-9T>G | XP_005268271.1:n.3731-9T>G | |
| XM_005268215.2:c.2027-9T>G | XP_005268272.1:n.2027-9T>G | |
| XM_006720321.2:c.5054-9T>G | XP_006720384.1:n.5054-9T>G | |
| XM_011537361.1:c.4893-9T>G | XP_011535663.1:n.4893-9T>G | |
| XR_943560.1:n.5512-9T>G | ||
| NM_001321851.1:c.5054-9T>G | NP_001308780.1:n.5054-9T>G | |
| NM_004239.4:c.5057-9T>G MANE Select | NP_004230.2:n.5057-9T>G | |
| XM_017021787.2:c.4352-9T>G | XP_016877276.1:n.4352-9T>G | |
| XM_017021788.2:c.3731-9T>G | XP_016877277.1:n.3731-9T>G | |
| XR_001750598.2:n.5342-9T>G | ||
| XR_943560.2:n.5506-9T>G |