Linked Data
ClinVar Variation Id:
4865
ClinVar RCV Id:
RCV000005141
dbSNP Id:
rs104893739
gnomAD v4:
3-138946137-G-A
PubMed:
PMID:12938087
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946137G>A , CM000665.2:g.138946137G>A | GRCh38 |
| NC_000003.11:g.138664979G>A , CM000665.1:g.138664979G>A | GRCh37 |
| NC_000003.10:g.140147669G>A | NCBI36 |
| NG_012454.1:g.6004C>T | |
| NG_029796.1:g.3904G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.586C>T MANE Select | ENSP00000497217.1:p.Gln196Ter | |
| ENST00000330315.3:c.586C>T | ENSP00000333188.3:p.Gln196Ter | |
| NM_023067.3:c.586C>T | NP_075555.1:p.Gln196Ter | |
| NM_023067.4:c.586C>T MANE Select | NP_075555.1:p.Gln196Ter |