Linked Data
ClinVar Variation Id:
1143944
ClinVar RCV Id:
RCV001482245
dbSNP Id:
rs768704103
ExAC:
2:26624944 C / T
gnomAD v2:
2-26624944-C-T
gnomAD v3:
2-26402076-C-T
gnomAD v4:
2-26402076-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26402076C>T , CM000664.2:g.26402076C>T | GRCh38 |
| NC_000002.11:g.26624944C>T , CM000664.1:g.26624944C>T | GRCh37 |
| NC_000002.10:g.26478448C>T | NCBI36 |
| NG_042824.1:g.5165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.87C>T MANE Select | ENSP00000288710.2:p.Ser29= | |
| ENST00000649059.1:c.73C>T | ||
| ENST00000288710.6:c.87C>T | ENSP00000288710.2:p.Ser29= | |
| ENST00000421869.5:c.87C>T | ENSP00000414375.1:p.Ser29= | |
| NM_145038.3:c.87C>T | NP_659475.2:p.Ser29= | |
| NM_145038.4:c.87C>T | NP_659475.2:p.Ser29= | |
| XM_005264637.3:c.-348C>T | XP_005264694.1:n.-348C>T | |
| XM_017005271.1:c.-794C>T | XP_016860760.1:n.-794C>T | |
| XM_024453218.1:c.-610C>T | XP_024308986.1:n.-610C>T | |
| NM_145038.5:c.87C>T MANE Select | NP_659475.2:p.Ser29= |