Linked Data
ClinVar Variation Id:
3014855
ClinVar RCV Id:
RCV003878478
dbSNP Id:
rs990403391
gnomAD v2:
7-21856145-A-G
gnomAD v3:
7-21816527-A-G
gnomAD v4:
7-21816527-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21816527A>G , CM000669.2:g.21816527A>G | GRCh38 |
| NC_000007.13:g.21856145A>G , CM000669.1:g.21856145A>G | GRCh37 |
| NC_000007.12:g.21822670A>G | NCBI36 |
| NG_012886.2:g.278313A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10393A>G MANE Select | ENSP00000475939.1:p.Ile3465Val | |
| ENST00000328843.10:c.10414A>G | ENSP00000330671.7:p.Ile3472Val | |
| ENST00000409508.7:c.10393A>G | ENSP00000475939.1:p.Ile3465Val | |
| ENST00000620169.4:c.10414A>G | ENSP00000481693.1:p.Ile3472Val | |
| NM_001277115.1:c.10393A>G | NP_001264044.1:p.Ile3465Val | |
| NM_001277115.2:c.10393A>G MANE Select | NP_001264044.1:p.Ile3465Val |