Linked Data
ClinVar Variation Id:
2173415
ClinVar RCV Id:
RCV002581899
dbSNP Id:
rs1279793778
gnomAD v2:
6-121768485-C-T
gnomAD v3:
6-121447339-C-T
gnomAD v4:
6-121447339-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447339C>T , CM000668.2:g.121447339C>T | GRCh38 |
| NC_000006.11:g.121768485C>T , CM000668.1:g.121768485C>T | GRCh37 |
| NC_000006.10:g.121810184C>T | NCBI36 |
| NG_008308.1:g.16741C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282561.4:c.492C>T MANE Select | ENSP00000282561.3:p.Ile164= | |
| ENST00000647564.1:c.492C>T | ENSP00000497565.1:p.Ile164= | |
| ENST00000649003.1:c.492C>T | ENSP00000497283.1:p.Ile164= | |
| ENST00000650427.1:c.492C>T | ENSP00000497367.1:p.Ile164= | |
| ENST00000282561.3:c.492C>T | ENSP00000282561.3:p.Ile164= | |
| NM_000165.4:c.492C>T | NP_000156.1:p.Ile164= | |
| NM_000165.5:c.492C>T MANE Select | NP_000156.1:p.Ile164= |