Linked Data
ClinVar Variation Id:
369918
ClinVar RCV Id:
RCV000408870
dbSNP Id:
rs1057516167
gnomAD v4:
3-138946091-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946091G>T , CM000665.2:g.138946091G>T | GRCh38 |
| NC_000003.11:g.138664933G>T , CM000665.1:g.138664933G>T | GRCh37 |
| NC_000003.10:g.140147623G>T | NCBI36 |
| NG_012454.1:g.6050C>A | |
| NG_029796.1:g.3858G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.632C>A MANE Select | ENSP00000497217.1:p.Ser211Ter | |
| ENST00000330315.3:c.632C>A | ENSP00000333188.3:p.Ser211Ter | |
| NM_023067.3:c.632C>A | NP_075555.1:p.Ser211Ter | |
| NM_023067.4:c.632C>A MANE Select | NP_075555.1:p.Ser211Ter |