Linked Data
ClinVar Variation Id:
2353361
ClinVar RCV Id:
RCV004192696
dbSNP Id:
rs146696783
ExAC:
5:10286549 A / G
gnomAD v2:
5-10286549-A-G
gnomAD v3:
5-10286437-A-G
gnomAD v4:
5-10286437-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10286437A>G , CM000667.2:g.10286437A>G | GRCh38 |
| NC_000005.9:g.10286549A>G , CM000667.1:g.10286549A>G | GRCh37 |
| NC_000005.8:g.10339549A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296658.4:c.383T>C MANE Select | ENSP00000296658.3:p.Ile128Thr | |
| ENST00000296658.3:c.383T>C | ENSP00000296658.3:p.Ile128Thr | |
| ENST00000506821.1:n.637T>C | ||
| ENST00000510532.5:n.451T>C | ||
| ENST00000511963.5:n.491T>C | ||
| NM_138809.3:c.383T>C | NP_620164.1:p.Ile128Thr | |
| NM_138809.4:c.383T>C MANE Select | NP_620164.1:p.Ile128Thr |