Linked Data
ClinVar Variation Id:
643840
ClinVar RCV Id:
RCV000797634
dbSNP Id:
rs745542616
gnomAD v3:
2-26402066-C-G
gnomAD v4:
2-26402066-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26402066C>G , CM000664.2:g.26402066C>G | GRCh38 |
| NC_000002.11:g.26624934C>G , CM000664.1:g.26624934C>G | GRCh37 |
| NC_000002.10:g.26478438C>G | NCBI36 |
| NG_042824.1:g.5155C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.77C>G MANE Select | ENSP00000288710.2:p.Ser26Trp | |
| ENST00000649059.1:c.63C>G | ||
| ENST00000288710.6:c.77C>G | ENSP00000288710.2:p.Ser26Trp | |
| ENST00000421869.5:c.77C>G | ENSP00000414375.1:p.Ser26Trp | |
| NM_145038.3:c.77C>G | NP_659475.2:p.Ser26Trp | |
| NM_145038.4:c.77C>G | NP_659475.2:p.Ser26Trp | |
| XM_005264637.3:c.-358C>G | XP_005264694.1:n.-358C>G | |
| XM_017005271.1:c.-804C>G | XP_016860760.1:n.-804C>G | |
| XM_024453218.1:c.-620C>G | XP_024308986.1:n.-620C>G | |
| NM_145038.5:c.77C>G MANE Select | NP_659475.2:p.Ser26Trp |