Linked Data
ClinVar Variation Id:
424665
dbSNP Id:
rs148407227
ExAC:
3:39108050 T / G
gnomAD v2:
3-39108050-T-G
gnomAD v3:
3-39066559-T-G
gnomAD v4:
3-39066559-T-G
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39066559T>G , CM000665.2:g.39066559T>G | GRCh38 |
| NC_000003.11:g.39108050T>G , CM000665.1:g.39108050T>G | GRCh37 |
| NC_000003.10:g.39083054T>G | NCBI36 |
| NG_051663.1:g.19574T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302313.10:c.280T>G MANE Select | ENSP00000307491.5:p.Ser94Ala | |
| ENST00000302313.9:c.280T>G | ENSP00000307491.5:p.Ser94Ala | |
| ENST00000413099.6:c.*9T>G | ENSP00000388720.2:n.*9T>G | |
| ENST00000420940.6:c.280T>G | ENSP00000415963.2:p.Ser94Ala | |
| ENST00000423296.6:c.280T>G | ENSP00000401421.2:p.Ser94Ala | |
| ENST00000433841.6:c.*75T>G | ENSP00000406025.2:n.*75T>G | |
| ENST00000441361.1:c.70T>G | ENSP00000416900.1:p.Ser24Ala | |
| NM_001303402.1:c.34T>G | NP_001290331.1:p.Ser12Ala | |
| NM_001303403.1:c.269-16T>G | NP_001290332.1:n.269-16T>G | |
| NM_020839.3:c.280T>G | NP_065890.1:p.Ser94Ala | |
| XM_005265346.2:c.280T>G | XP_005265403.1:p.Ser94Ala | |
| XM_011533971.1:c.70T>G | XP_011532273.1:p.Ser24Ala | |
| XR_940485.1:n.310T>G | ||
| NM_001346225.1:c.280T>G | NP_001333154.1:p.Ser94Ala | |
| NM_001346226.1:c.109T>G | NP_001333155.1:p.Ser37Ala | |
| NM_001346227.1:c.-116T>G | NP_001333156.1:n.-116T>G | |
| NM_001346228.1:c.70T>G | NP_001333157.1:p.Ser24Ala | |
| NR_144399.1:n.320T>G | ||
| NR_144400.1:n.320T>G | ||
| NR_144401.1:n.320T>G | ||
| XM_005265346.4:c.280T>G | XP_005265403.1:p.Ser94Ala | |
| XM_011533971.2:c.70T>G | XP_011532273.1:p.Ser24Ala | |
| NM_020839.4:c.280T>G MANE Select | NP_065890.1:p.Ser94Ala | |
| NM_001303402.2:c.34T>G | NP_001290331.1:p.Ser12Ala | |
| NM_001303403.2:c.269-16T>G | NP_001290332.1:n.269-16T>G | |
| NM_001346225.2:c.280T>G | NP_001333154.1:p.Ser94Ala | |
| NM_001346226.2:c.109T>G | NP_001333155.1:p.Ser37Ala | |
| NM_001346227.2:c.-116T>G | NP_001333156.1:n.-116T>G | |
| NR_144399.2:n.290T>G | ||
| NR_144400.2:n.290T>G | ||
| NR_144401.2:n.290T>G | ||
| NM_001346228.2:c.70T>G | NP_001333157.1:p.Ser24Ala |