Linked Data
ClinVar Variation Id:
1024129
ClinVar RCV Id:
RCV001324276
dbSNP Id:
rs778388067
gnomAD v4:
2-26402104-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26402104C>G , CM000664.2:g.26402104C>G | GRCh38 |
| NC_000002.11:g.26624972C>G , CM000664.1:g.26624972C>G | GRCh37 |
| NC_000002.10:g.26478476C>G | NCBI36 |
| NG_042824.1:g.5193C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.115C>G MANE Select | ENSP00000288710.2:p.Arg39Gly | |
| ENST00000649059.1:c.101C>G | ||
| ENST00000288710.6:c.115C>G | ENSP00000288710.2:p.Arg39Gly | |
| ENST00000421869.5:c.115C>G | ENSP00000414375.1:p.Arg39Gly | |
| NM_145038.3:c.115C>G | NP_659475.2:p.Arg39Gly | |
| NM_145038.4:c.115C>G | NP_659475.2:p.Arg39Gly | |
| XM_005264637.3:c.-320C>G | XP_005264694.1:n.-320C>G | |
| XM_017005271.1:c.-766C>G | XP_016860760.1:n.-766C>G | |
| XM_024453218.1:c.-582C>G | XP_024308986.1:n.-582C>G | |
| NM_145038.5:c.115C>G MANE Select | NP_659475.2:p.Arg39Gly |