Linked Data
ClinVar Variation Id:
219980
ClinVar RCV Id:
RCV000205270
dbSNP Id:
rs376875223
ExAC:
7:21827184 A / G
gnomAD v2:
7-21827184-A-G
gnomAD v3:
7-21787566-A-G
gnomAD v4:
7-21787566-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21787566A>G , CM000669.2:g.21787566A>G | GRCh38 |
| NC_000007.13:g.21827184A>G , CM000669.1:g.21827184A>G | GRCh37 |
| NC_000007.12:g.21793709A>G | NCBI36 |
| NG_012886.2:g.249352A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.9907A>G MANE Select | ENSP00000475939.1:p.Ile3303Val | |
| ENST00000328843.10:c.9928A>G | ENSP00000330671.7:p.Ile3310Val | |
| ENST00000409508.7:c.9907A>G | ENSP00000475939.1:p.Ile3303Val | |
| ENST00000620169.4:c.9928A>G | ENSP00000481693.1:p.Ile3310Val | |
| NM_001277115.1:c.9907A>G | NP_001264044.1:p.Ile3303Val | |
| NM_001277115.2:c.9907A>G MANE Select | NP_001264044.1:p.Ile3303Val |