Linked Data
ClinVar Variation Id:
369892
ClinVar RCV Id:
RCV000408759
dbSNP Id:
rs1057516145
gnomAD v3:
3-138946528-C-T
gnomAD v4:
3-138946528-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946528C>T , CM000665.2:g.138946528C>T | GRCh38 |
| NC_000003.11:g.138665370C>T , CM000665.1:g.138665370C>T | GRCh37 |
| NC_000003.10:g.140148060C>T | NCBI36 |
| NG_012454.1:g.5613G>A | |
| NG_029796.1:g.4295C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648323.1:c.195G>A MANE Select | ENSP00000497217.1:p.Met65Ile | |
| ENST00000330315.3:c.195G>A | ENSP00000333188.3:p.Met65Ile | |
| NM_023067.3:c.195G>A | NP_075555.1:p.Met65Ile | |
| NM_023067.4:c.195G>A MANE Select | NP_075555.1:p.Met65Ile |