Linked Data
ClinVar Variation Id:
492900
dbSNP Id:
rs1340425455
gnomAD v2:
2-31758838-T-C
gnomAD v4:
2-31533768-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31533768T>C , CM000664.2:g.31533768T>C | GRCh38 |
| NC_000002.11:g.31758838T>C , CM000664.1:g.31758838T>C | GRCh37 |
| NC_000002.10:g.31612342T>C | NCBI36 |
| NG_008365.1:g.52204A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.282-2A>G MANE Select | ENSP00000477587.1:n.282-2A>G | |
| ENST00000622030.1:c.282-2A>G | ENSP00000477587.1:n.282-2A>G | |
| NM_000348.3:c.282-2A>G | NP_000339.2:n.282-2A>G | |
| XM_011533068.1:c.282-2A>G | XP_011531370.1:n.282-2A>G | |
| XM_011533069.1:c.60-2A>G | XP_011531371.1:n.60-2A>G | |
| XM_011533070.1:c.27-2A>G | XP_011531372.1:n.27-2A>G | |
| XM_011533071.1:c.27-2A>G | XP_011531373.1:n.27-2A>G | |
| XM_011533072.1:c.27-2A>G | XP_011531374.1:n.27-2A>G | |
| XM_011533069.2:c.60-2A>G | XP_011531371.1:n.60-2A>G | |
| XM_011533072.2:c.27-2A>G | XP_011531374.1:n.27-2A>G | |
| NM_000348.4:c.282-2A>G MANE Select | NP_000339.2:n.282-2A>G |