Linked Data
ClinVar Variation Id:
2788778
ClinVar RCV Id:
RCV003749145
dbSNP Id:
rs2126749102
gnomAD v4:
5-140114637-C-T
MyVariant Identifiers:
chr5:g.139494222C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114637C>T , CM000667.2:g.140114637C>T | GRCh38 |
| NC_000005.9:g.139494222C>T , CM000667.1:g.139494222C>T | GRCh37 |
| NC_000005.8:g.139474406C>T | NCBI36 |
| NG_041813.1:g.5515C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.456C>T MANE Select | ENSP00000332706.3:p.Asn152= | |
| ENST00000651386.1:c.456C>T | ENSP00000499133.1:p.Asn152= | |
| ENST00000331327.4:c.456C>T | ENSP00000332706.3:p.Asn152= | |
| NM_005859.4:c.456C>T | NP_005850.1:p.Asn152= | |
| NM_005859.5:c.456C>T MANE Select | NP_005850.1:p.Asn152= |