Linked Data
ClinVar Variation Id:
1621212
ClinVar RCV Id:
RCV002091919
dbSNP Id:
rs770831980
ExAC:
8:99169893 T / A
gnomAD v2:
8-99169893-T-A
gnomAD v3:
8-98157665-T-A
gnomAD v4:
8-98157665-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.98157665T>A , CM000670.2:g.98157665T>A | GRCh38 |
| NC_000008.10:g.99169893T>A , CM000670.1:g.99169893T>A | GRCh37 |
| NC_000008.9:g.99239069T>A | NCBI36 |
| NG_052869.1:g.45373T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401707.7:c.2469T>A MANE Select | ENSP00000385787.2:p.Ser823= | |
| ENST00000349693.3:c.2469T>A | ENSP00000339529.3:p.Ser823= | |
| ENST00000401707.6:c.2469T>A | ENSP00000385787.2:p.Ser823= | |
| ENST00000517435.1:n.504T>A | ||
| NM_001145860.1:c.2469T>A | NP_001139332.1:p.Ser823= | |
| NM_001145861.1:c.2469T>A | NP_001139333.1:p.Ser823= | |
| NM_015029.2:c.2469T>A | NP_055844.2:p.Ser823= | |
| NM_001145860.2:c.2469T>A MANE Select | NP_001139332.1:p.Ser823= | |
| NM_001145861.2:c.2469T>A | NP_001139333.1:p.Ser823= | |
| NM_015029.3:c.2469T>A | NP_055844.2:p.Ser823= |