Linked Data
ClinVar Variation Id:
772325
ClinVar RCV Id:
RCV000951851
dbSNP Id:
rs1176291675
gnomAD v4:
5-140114715-T-G
MyVariant Identifiers:
chr5:g.139494300T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114715T>G , CM000667.2:g.140114715T>G | GRCh38 |
| NC_000005.9:g.139494300T>G , CM000667.1:g.139494300T>G | GRCh37 |
| NC_000005.8:g.139474484T>G | NCBI36 |
| NG_041813.1:g.5593T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.534T>G MANE Select | ENSP00000332706.3:p.Pro178= | |
| ENST00000651386.1:c.534T>G | ENSP00000499133.1:p.Pro178= | |
| ENST00000331327.4:c.534T>G | ENSP00000332706.3:p.Pro178= | |
| NM_005859.4:c.534T>G | NP_005850.1:p.Pro178= | |
| NM_005859.5:c.534T>G MANE Select | NP_005850.1:p.Pro178= |