Linked Data
dbSNP Id:
rs769882616
ExAC:
7:21893963 A / G
gnomAD v2:
7-21893963-A-G
gnomAD v3:
7-21854345-A-G
gnomAD v4:
7-21854345-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21854345A>G , CM000669.2:g.21854345A>G | GRCh38 |
| NC_000007.13:g.21893963A>G , CM000669.1:g.21893963A>G | GRCh37 |
| NC_000007.12:g.21860488A>G | NCBI36 |
| NG_012886.2:g.316131A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.11092A>G MANE Select | ENSP00000475939.1:p.Ile3698Val | |
| ENST00000328843.10:c.11113A>G | ENSP00000330671.7:p.Ile3705Val | |
| ENST00000409508.7:c.11092A>G | ENSP00000475939.1:p.Ile3698Val | |
| ENST00000421290.1:n.275A>G | ||
| ENST00000607413.5:n.355A>G | ||
| ENST00000620169.4:c.11113A>G | ENSP00000481693.1:p.Ile3705Val | |
| NM_001277115.1:c.11092A>G | NP_001264044.1:p.Ile3698Val | |
| NM_001277115.2:c.11092A>G MANE Select | NP_001264044.1:p.Ile3698Val |