Linked Data
ClinVar Variation Id:
471955
dbSNP Id:
rs143292919
ExAC:
8:74890994 C / T
gnomAD v2:
8-74890994-C-T
gnomAD v3:
8-73978759-C-T
gnomAD v4:
8-73978759-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.73978759C>T , CM000670.2:g.73978759C>T | GRCh38 |
| NC_000008.10:g.74890994C>T , CM000670.1:g.74890994C>T | GRCh37 |
| NC_000008.9:g.75053548C>T | NCBI36 |
| NG_016618.1:g.7618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312184.6:c.214C>T MANE Select | ENSP00000312599.5:p.Pro72Ser | |
| ENST00000312184.5:c.214C>T | ENSP00000312599.5:p.Pro72Ser | |
| ENST00000416961.6:c.214C>T | ENSP00000407695.2:p.Pro72Ser | |
| ENST00000517439.1:c.214C>T | ENSP00000429467.1:p.Pro72Ser | |
| ENST00000517614.1:n.277C>T | ||
| ENST00000519551.1:n.12C>T | ||
| ENST00000520167.5:n.321C>T | ||
| NM_001040613.2:c.214C>T | NP_001035703.1:p.Pro72Ser | |
| NM_017866.5:c.214C>T | NP_060336.3:p.Pro72Ser | |
| NR_033334.1:n.354C>T | ||
| NM_017866.6:c.214C>T MANE Select | NP_060336.3:p.Pro72Ser | |
| NM_001040613.3:c.214C>T | NP_001035703.1:p.Pro72Ser | |
| NR_033334.2:n.301C>T |