Linked Data
ClinVar Variation Id:
213334
dbSNP Id:
rs762108847
ExAC:
5:127648404 C / T
gnomAD v2:
5-127648404-C-T
gnomAD v4:
5-128312712-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128312712C>T , CM000667.2:g.128312712C>T | GRCh38 |
| NC_000005.9:g.127648404C>T , CM000667.1:g.127648404C>T | GRCh37 |
| NC_000005.8:g.127676303C>T | NCBI36 |
| NG_008750.1:g.230332G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1585G>A | ||
| ENST00000703785.1:n.1583-759G>A | ||
| ENST00000262464.9:c.4801G>A MANE Select | ENSP00000262464.4:p.Val1601Ile | |
| ENST00000262464.8:c.4801G>A | ENSP00000262464.4:p.Val1601Ile | |
| ENST00000508053.5:c.4801G>A | ENSP00000424571.1:p.Val1601Ile | |
| ENST00000619499.4:c.4798G>A | ENSP00000482132.1:p.Val1600Ile | |
| NM_001999.3:c.4801G>A | NP_001990.2:p.Val1601Ile | |
| XM_017009228.2:c.4648G>A | XP_016864717.1:p.Val1550Ile | |
| NM_001999.4:c.4801G>A MANE Select | NP_001990.2:p.Val1601Ile |