Linked Data
ClinVar Variation Id:
320007
dbSNP Id:
rs201238241
ExAC:
16:57486785 G / A
gnomAD v2:
16-57486785-G-A
gnomAD v3:
16-57452873-G-A
gnomAD v4:
16-57452873-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57452873G>A , CM000678.2:g.57452873G>A | GRCh38 |
| NC_000016.9:g.57486785G>A , CM000678.1:g.57486785G>A | GRCh37 |
| NC_000016.8:g.56044286G>A | NCBI36 |
| NG_027696.1:g.10449G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262507.11:c.315G>A MANE Select | ENSP00000262507.5:p.Thr105= | |
| ENST00000262507.10:c.315G>A | ENSP00000262507.5:p.Thr105= | |
| ENST00000562426.5:n.318G>A | ||
| ENST00000562734.5:n.339G>A | ||
| ENST00000563166.1:c.261G>A | ENSP00000455495.1:p.Thr87= | |
| ENST00000563391.1:c.-94G>A | ENSP00000455516.1:n.-94G>A | |
| ENST00000564115.5:c.315G>A | ENSP00000455256.1:p.Thr105= | |
| ENST00000564655.5:c.327G>A | ENSP00000454992.1:p.Thr109= | |
| ENST00000565964.5:c.315G>A | ENSP00000458023.1:p.Thr105= | |
| ENST00000566388.5:n.396G>A | ||
| ENST00000567072.5:c.315G>A | ENSP00000456728.1:p.Thr105= | |
| ENST00000567480.1:n.245G>A | ||
| ENST00000567933.5:c.315G>A | ENSP00000456174.1:p.Thr105= | |
| ENST00000568790.5:n.339G>A | ||
| NM_020312.3:c.315G>A | NP_064708.1:p.Thr105= | |
| NM_020312.4:c.315G>A MANE Select | NP_064708.1:p.Thr105= |