Linked Data
dbSNP Id:
rs143232740
ExAC:
22:37581465 C / T
gnomAD v2:
22-37581465-C-T
gnomAD v3:
22-37185425-C-T
gnomAD v4:
22-37185425-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37185425C>T , CM000684.2:g.37185425C>T | GRCh38 |
| NC_000022.10:g.37581465C>T , CM000684.1:g.37581465C>T | GRCh37 |
| NC_000022.9:g.35911411C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337843.7:c.82G>A MANE Select | ENSP00000338812.2:p.Val28Ile | |
| ENST00000337843.6:c.82G>A | ENSP00000338812.2:p.Val28Ile | |
| ENST00000397110.6:c.82G>A | ENSP00000380299.2:p.Val28Ile | |
| ENST00000434784.1:c.82G>A | ENSP00000399243.1:p.Val28Ile | |
| ENST00000470655.5:n.3572G>A | ||
| ENST00000493023.1:n.524G>A | ||
| NM_031910.3:c.82G>A | NP_114116.3:p.Val28Ile | |
| NM_182486.1:c.82G>A | NP_872292.1:p.Val28Ile | |
| XM_006724125.2:c.25G>A | XP_006724188.1:p.Val9Ile | |
| XM_011529857.1:c.25G>A | XP_011528159.1:p.Val9Ile | |
| NM_001365878.1:c.25G>A | NP_001352807.1:p.Val9Ile | |
| XM_011529857.2:c.25G>A | XP_011528159.1:p.Val9Ile | |
| XM_017028569.1:c.82G>A | XP_016884058.1:p.Val28Ile | |
| XM_024452150.1:c.82G>A | XP_024307918.1:p.Val28Ile | |
| XM_024452151.1:c.82G>A | XP_024307919.1:p.Val28Ile | |
| XM_024452152.1:c.82G>A | XP_024307920.1:p.Val28Ile | |
| XM_024452153.1:c.82G>A | XP_024307921.1:p.Val28Ile | |
| XM_024452154.1:c.82G>A | XP_024307922.1:p.Val28Ile | |
| XM_024452155.1:c.25G>A | XP_024307923.1:p.Val9Ile | |
| NM_031910.4:c.82G>A MANE Select | NP_114116.3:p.Val28Ile | |
| NM_182486.2:c.82G>A | NP_872292.1:p.Val28Ile |