Linked Data
ClinVar Variation Id:
283917
dbSNP Id:
rs779584830
ExAC:
1:211652468 G / A
gnomAD v2:
1-211652468-G-A
gnomAD v3:
1-211479126-G-A
gnomAD v4:
1-211479126-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.211479126G>A , CM000663.2:g.211479126G>A | GRCh38 |
| NC_000001.10:g.211652468G>A , CM000663.1:g.211652468G>A | GRCh37 |
| NC_000001.9:g.209719091G>A | NCBI36 |
| NG_013042.1:g.18792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367002.5:c.498C>T | ENSP00000355969.4:p.Ile166= | |
| ENST00000680073.1:c.498C>T MANE Select | ENSP00000505312.1:p.Ile166= | |
| ENST00000367002.4:c.498C>T | ENSP00000355969.4:p.Ile166= | |
| ENST00000484910.1:n.466C>T | ||
| NM_001164688.1:c.498C>T | NP_001158160.1:p.Ile166= | |
| NM_183059.2:c.498C>T | NP_898882.1:p.Ile166= | |
| XM_011509479.1:c.498C>T | XP_011507781.1:p.Ile166= | |
| XM_017001151.1:c.534C>T | XP_016856640.1:p.Ile178= | |
| NM_183059.3:c.498C>T | NP_898882.1:p.Ile166= | |
| NM_001164688.2:c.498C>T MANE Select | NP_001158160.1:p.Ile166= |