Linked Data
ClinVar Variation Id:
369888
ClinVar RCV Id:
RCV000408854
dbSNP Id:
rs1057516141
gnomAD v4:
3-138946552-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946552G>C , CM000665.2:g.138946552G>C | GRCh38 |
| NC_000003.11:g.138665394G>C , CM000665.1:g.138665394G>C | GRCh37 |
| NC_000003.10:g.140148084G>C | NCBI36 |
| NG_012454.1:g.5589C>G | |
| NG_029796.1:g.4319G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648323.1:c.171C>G MANE Select | ENSP00000497217.1:p.Tyr57Ter | |
| ENST00000330315.3:c.171C>G | ENSP00000333188.3:p.Tyr57Ter | |
| NM_023067.3:c.171C>G | NP_075555.1:p.Tyr57Ter | |
| NM_023067.4:c.171C>G MANE Select | NP_075555.1:p.Tyr57Ter |