Linked Data
dbSNP Id:
rs1032723398
gnomAD v2:
11-17634220-G-A
gnomAD v3:
11-17612673-G-A
gnomAD v4:
11-17612673-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17612673G>A , CM000673.2:g.17612673G>A | GRCh38 |
| NC_000011.9:g.17634220G>A , CM000673.1:g.17634220G>A | GRCh37 |
| NC_000011.8:g.17590796G>A | NCBI36 |
| NG_033191.1:g.70301G>A | |
| NG_033191.2:g.70301G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.6382G>A | ENSP00000382323.2:p.Val2128Ile | |
| ENST00000399397.6:c.6346G>A MANE Select | ENSP00000382329.2:p.Val2116Ile | |
| ENST00000342528.2:c.3400G>A | ENSP00000341666.2:p.Val1134Ile | |
| ENST00000399391.6:c.6382G>A | ENSP00000382323.2:p.Val2128Ile | |
| ENST00000399397.5:c.6346G>A | ENSP00000382329.2:p.Val2116Ile | |
| NM_001277269.1:c.6382G>A | NP_001264198.1:p.Val2128Ile | |
| NM_001292063.1:c.6346G>A | NP_001278992.1:p.Val2116Ile | |
| NM_001277269.2:c.6382G>A | NP_001264198.1:p.Val2128Ile | |
| NM_001292063.2:c.6346G>A MANE Select | NP_001278992.1:p.Val2116Ile |