Linked Data
ClinVar Variation Id:
380151
dbSNP Id:
rs1264299
ExAC:
6:30883920 C / T
gnomAD v2:
6-30883920-C-T
gnomAD v3:
6-30916143-C-T
gnomAD v4:
6-30916143-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30916143C>T , CM000668.2:g.30916143C>T | GRCh38 |
| NC_000006.11:g.30883920C>T , CM000668.1:g.30883920C>T | GRCh37 |
| NC_000006.10:g.30991899C>T | NCBI36 |
| NG_034224.1:g.6936C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.574-9C>T | ENSP00000441000.2:n.574-9C>T | |
| ENST00000672801.1:c.574-9C>T | ENSP00000500615.1:n.574-9C>T | |
| ENST00000676266.1:c.574-9C>T MANE Select | ENSP00000502585.1:n.574-9C>T | |
| ENST00000321897.9:c.574-9C>T | ENSP00000316092.5:n.574-9C>T | |
| ENST00000428017.5:c.574-9C>T | ENSP00000403749.1:n.574-9C>T | |
| ENST00000467717.5:n.452-9C>T | ||
| ENST00000477288.5:n.3162-9C>T | ||
| ENST00000541562.5:c.664-9C>T | ENSP00000441000.1:n.664-9C>T | |
| ENST00000542001.5:c.574-9C>T | ENSP00000438200.2:n.574-9C>T | |
| ENST00000625423.2:c.154-9C>T | ENSP00000485818.1:n.154-9C>T | |
| NM_001167733.2:c.154-9C>T | NP_001161205.1:n.154-9C>T | |
| NM_001167734.1:c.664-9C>T | NP_001161206.1:n.664-9C>T | |
| NM_020442.5:c.574-9C>T | NP_065175.4:n.574-9C>T | |
| NM_001167733.3:c.154-9C>T | NP_001161205.1:n.154-9C>T | |
| NM_001167734.2:c.664-9C>T | NP_001161206.1:n.664-9C>T | |
| NM_020442.6:c.574-9C>T MANE Select | NP_065175.4:n.574-9C>T |