Linked Data
ClinVar Variation Id:
905935
dbSNP Id:
rs372381365
ExAC:
5:33984379 G / A
gnomAD v2:
5-33984379-G-A
gnomAD v3:
5-33984274-G-A
gnomAD v4:
5-33984274-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33984274G>A , CM000667.2:g.33984274G>A | GRCh38 |
| NC_000005.9:g.33984379G>A , CM000667.1:g.33984379G>A | GRCh37 |
| NC_000005.8:g.34020136G>A | NCBI36 |
| NG_011691.2:g.5402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.310C>T MANE Select | ENSP00000296589.4:p.Pro104Ser | |
| ENST00000296589.8:c.310C>T | ENSP00000296589.4:p.Pro104Ser | |
| ENST00000382102.7:c.310C>T | ENSP00000371534.3:p.Pro104Ser | |
| ENST00000505056.1:n.289C>T | ||
| ENST00000509381.1:c.310C>T | ENSP00000421100.1:p.Pro104Ser | |
| NM_001012509.3:c.310C>T | NP_001012527.1:p.Pro104Ser | |
| NM_001297417.2:c.310C>T | NP_001284346.2:p.Pro104Ser | |
| NM_016180.4:c.310C>T | NP_057264.3:p.Pro104Ser | |
| XM_011514052.1:c.310C>T | XP_011512354.1:p.Pro104Ser | |
| XR_925620.1:n.871C>T | ||
| NM_016180.5:c.310C>T MANE Select | NP_057264.4:p.Pro104Ser | |
| NM_001012509.4:c.310C>T | NP_001012527.2:p.Pro104Ser | |
| NM_001297417.3:c.310C>T | NP_001284346.2:p.Pro104Ser | |
| NM_001297417.4:c.310C>T | NP_001284346.2:p.Pro104Ser |