Linked Data
ClinVar Variation Id:
772371
ClinVar RCV Id:
RCV000951907
dbSNP Id:
rs925159576
gnomAD v4:
5-140114754-C-G
MyVariant Identifiers:
chr5:g.139494339C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114754C>G , CM000667.2:g.140114754C>G | GRCh38 |
| NC_000005.9:g.139494339C>G , CM000667.1:g.139494339C>G | GRCh37 |
| NC_000005.8:g.139474523C>G | NCBI36 |
| NG_041813.1:g.5632C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.573C>G MANE Select | ENSP00000332706.3:p.Pro191= | |
| ENST00000651386.1:c.573C>G | ENSP00000499133.1:p.Pro191= | |
| ENST00000331327.4:c.573C>G | ENSP00000332706.3:p.Pro191= | |
| NM_005859.4:c.573C>G | NP_005850.1:p.Pro191= | |
| NM_005859.5:c.573C>G MANE Select | NP_005850.1:p.Pro191= |