Linked Data
ClinVar Variation Id:
5510
ClinVar RCV Id:
RCV000005845
dbSNP Id:
rs863223281
gnomAD v4:
14-92025422-T-C
PubMed:
PMID:20089971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92025422T>C , CM000676.2:g.92025422T>C | GRCh38 |
| NC_000014.8:g.92491766T>C , CM000676.1:g.92491766T>C | GRCh37 |
| NC_000014.7:g.91561519T>C | NCBI36 |
| NG_016970.1:g.19638A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.202-2A>G MANE Select | ENSP00000267622.4:n.202-2A>G | |
| ENST00000555516.6:c.-282-2A>G | ENSP00000451944.1:n.-282-2A>G | |
| NM_004239.3:c.202-2A>G | NP_004230.2:n.202-2A>G | |
| XM_005268215.2:c.202-2A>G | XP_005268272.1:n.202-2A>G | |
| XM_006720321.2:c.199-2A>G | XP_006720384.1:n.199-2A>G | |
| XM_011537361.1:c.202-2A>G | XP_011535663.1:n.202-2A>G | |
| XR_943560.1:n.657-2A>G | ||
| NM_001321851.1:c.199-2A>G | NP_001308780.1:n.199-2A>G | |
| NM_004239.4:c.202-2A>G MANE Select | NP_004230.2:n.202-2A>G | |
| XM_017021787.2:c.-545-2A>G | XP_016877276.1:n.-545-2A>G | |
| XM_017021788.2:c.-997-2A>G | XP_016877277.1:n.-997-2A>G | |
| XR_001750598.2:n.651-2A>G | ||
| XR_943560.2:n.651-2A>G |