Linked Data
dbSNP Id:
rs541279700
ExAC:
12:52913969 A / C
gnomAD v2:
12-52913969-A-C
gnomAD v3:
12-52520185-A-C
gnomAD v4:
12-52520185-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520185A>C , CM000674.2:g.52520185A>C | GRCh38 |
| NC_000012.11:g.52913969A>C , CM000674.1:g.52913969A>C | GRCh37 |
| NC_000012.10:g.51200236A>C | NCBI36 |
| NG_008297.1:g.5275T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.112T>G MANE Select | ENSP00000252242.4:p.Ser38Ala | |
| ENST00000252242.8:c.112T>G | ENSP00000252242.4:p.Ser38Ala | |
| ENST00000546577.1:c.112T>G | ENSP00000449651.1:p.Ser38Ala | |
| ENST00000549420.1:c.43+69T>G | ENSP00000447209.1:n.43+69T>G | |
| ENST00000551275.1:c.112T>G | ENSP00000448041.1:p.Ser38Ala | |
| ENST00000552629.5:n.210T>G | ||
| NM_000424.3:c.112T>G | NP_000415.2:p.Ser38Ala | |
| NM_000424.4:c.112T>G MANE Select | NP_000415.2:p.Ser38Ala |