Linked Data
ClinVar Variation Id:
289419
dbSNP Id:
rs145208127
ExAC:
6:24503640 C / T
gnomAD v2:
6-24503640-C-T
gnomAD v3:
6-24503412-C-T
gnomAD v4:
6-24503412-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503412C>T , CM000668.2:g.24503412C>T | GRCh38 |
| NC_000006.11:g.24503640C>T , CM000668.1:g.24503640C>T | GRCh37 |
| NC_000006.10:g.24611619C>T | NCBI36 |
| NG_008161.1:g.13444C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.588C>T MANE Select | ENSP00000350191.3:p.Gly196= | |
| ENST00000672352.1:c.351C>T | ENSP00000500876.1:p.Gly117= | |
| ENST00000672557.1:c.506C>T | ||
| ENST00000672652.1:c.509C>T | ||
| ENST00000675422.1:n.1348C>T | ||
| ENST00000348925.2:c.588C>T | ENSP00000314649.3:p.Gly196= | |
| ENST00000357578.7:c.588C>T | ENSP00000350191.3:p.Gly196= | |
| ENST00000491546.5:c.504C>T | ENSP00000417687.1:p.Gly168= | |
| NM_001080.3:c.588C>T MANE Select | NP_001071.1:p.Gly196= | |
| NM_170740.1:c.588C>T | NP_733936.1:p.Gly196= | |
| NM_001368954.1:c.588C>T | NP_001355883.1:p.Gly196= |