Linked Data
ClinVar Variation Id:
142904
dbSNP Id:
rs541660851
gnomAD v3:
1-161362359-C-A
gnomAD v4:
1-161362359-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161362359C>A , CM000663.2:g.161362359C>A | GRCh38 |
| NC_000001.10:g.161332149C>A , CM000663.1:g.161332149C>A | GRCh37 |
| NC_000001.9:g.159598773C>A | NCBI36 |
| NG_012767.1:g.52984C>A , LRG_317:g.52984C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.*437C>A | ENSP00000482902.2:n.*437C>A | |
| ENST00000367975.7:c.436C>A MANE Select | ENSP00000356953.3:p.Pro146Thr | |
| ENST00000342751.8:c.272C>A | ENSP00000356952.3:p.Ser91Tyr | |
| ENST00000367975.6:c.436C>A | ENSP00000356953.2:p.Pro146Thr | |
| ENST00000392169.6:c.277C>A | ENSP00000376009.2:p.Pro93Thr | |
| ENST00000432287.6:c.334C>A | ENSP00000390558.2:p.Pro112Thr | |
| ENST00000470743.4:c.534C>A | ||
| ENST00000504963.5:c.*259C>A | ENSP00000423929.1:n.*259C>A | |
| ENST00000513009.5:c.170C>A | ENSP00000423260.1:p.Ser57Tyr | |
| NM_001035511.1:c.272C>A | NP_001030588.1:p.Ser91Tyr | |
| NM_001035512.1:c.334C>A | NP_001030589.1:p.Pro112Thr | |
| NM_001035513.1:c.277C>A | NP_001030590.1:p.Pro93Thr | |
| NM_001278172.1:c.170C>A | NP_001265101.1:p.Ser57Tyr | |
| NM_003001.3:c.436C>A , LRG_317t1:c.436C>A | NP_002992.1:p.Pro146Thr | |
| NR_103459.1:n.493C>A | ||
| NM_001035511.2:c.272C>A | NP_001030588.1:p.Ser91Tyr | |
| NM_001035512.2:c.334C>A | NP_001030589.1:p.Pro112Thr | |
| NM_001035513.2:c.277C>A | NP_001030590.1:p.Pro93Thr | |
| NM_001278172.2:c.170C>A | NP_001265101.1:p.Ser57Tyr | |
| NM_003001.5:c.436C>A MANE Select | NP_002992.1:p.Pro146Thr | |
| NR_103459.2:n.488C>A |