Linked Data
ClinVar Variation Id:
266094
ClinVar RCV Id:
RCV000256428
dbSNP Id:
rs886039806
gnomAD v2:
14-58934605-T-G
gnomAD v3:
14-58467887-T-G
gnomAD v4:
14-58467887-T-G
PubMed:
PMID:27894351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58467887T>G , CM000676.2:g.58467887T>G | GRCh38 |
| NC_000014.8:g.58934605T>G , CM000676.1:g.58934605T>G | GRCh37 |
| NC_000014.7:g.58004358T>G | NCBI36 |
| NG_051335.2:g.45503T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619722.5:c.2152T>G | ENSP00000481936.1:p.Ser718Ala | |
| ENST00000650845.1:n.2953T>G | ||
| ENST00000650904.1:c.2407T>G | ENSP00000498606.1:p.Ser803Ala | |
| ENST00000651759.1:c.1156T>G | ENSP00000498415.1:p.Ser386Ala | |
| ENST00000651937.1:c.*488T>G | ENSP00000498785.1:n.*488T>G | |
| ENST00000652326.2:c.2407T>G MANE Select | ENSP00000498929.1:p.Ser803Ala | |
| ENST00000652414.1:c.511T>G | ENSP00000498397.1:p.Ser171Ala | |
| ENST00000652732.1:c.*1973T>G | ENSP00000498799.1:n.*1973T>G | |
| ENST00000261244.9:c.2179T>G | ENSP00000261244.5:p.Ser727Ala | |
| ENST00000354386.10:c.2566T>G | ENSP00000346359.6:p.Ser856Ala | |
| ENST00000423743.7:c.2275T>G | ENSP00000399427.3:p.Ser759Ala | |
| ENST00000538571.6:n.1997T>G | ||
| ENST00000556134.5:c.2275T>G | ENSP00000452351.2:p.Ser759Ala | |
| ENST00000619416.4:c.2362T>G | ENSP00000478083.1:p.Ser788Ala | |
| ENST00000619722.4:c.2152T>G | ENSP00000481936.1:p.Ser718Ala | |
| NM_001244189.1:c.2566T>G | NP_001231118.1:p.Ser856Ala | |
| NM_001244190.1:c.2362T>G | NP_001231119.1:p.Ser788Ala | |
| NM_001244191.1:c.2152T>G | NP_001231120.1:p.Ser718Ala | |
| NM_001244192.1:c.2275T>G | NP_001231121.1:p.Ser759Ala | |
| NM_001244193.1:c.1987T>G | NP_001231122.1:p.Ser663Ala | |
| NM_014749.3:c.2179T>G | NP_055564.3:p.Ser727Ala | |
| NM_001329943.2:c.2407T>G | NP_001316872.1:p.Ser803Ala | |
| NM_001329944.1:c.2407T>G | NP_001316873.1:p.Ser803Ala | |
| NM_001329945.1:c.2152T>G | NP_001316874.1:p.Ser718Ala | |
| NM_001329946.1:c.2407T>G | NP_001316875.1:p.Ser803Ala | |
| NM_001329947.1:c.2407T>G | NP_001316876.1:p.Ser803Ala | |
| NM_001364700.1:c.2152T>G | NP_001351629.1:p.Ser718Ala | |
| NM_001364701.1:c.2152T>G | NP_001351630.1:p.Ser718Ala | |
| NM_014749.4:c.2179T>G | NP_055564.3:p.Ser727Ala | |
| XM_024449779.1:c.2530T>G | XP_024305547.1:p.Ser844Ala | |
| XM_024449780.1:c.2431T>G | XP_024305548.1:p.Ser811Ala | |
| XM_024449781.1:c.2530T>G | XP_024305549.1:p.Ser844Ala | |
| XM_024449782.1:c.2176T>G | XP_024305550.1:p.Ser726Ala | |
| XM_024449783.1:c.2176T>G | XP_024305551.1:p.Ser726Ala | |
| XM_024449784.1:c.2176T>G | XP_024305552.1:p.Ser726Ala | |
| XM_024449785.1:c.2152T>G | XP_024305553.1:p.Ser718Ala | |
| XM_024449787.1:c.2011T>G | XP_024305555.1:p.Ser671Ala | |
| XM_024449788.1:c.1987T>G | XP_024305556.1:p.Ser663Ala | |
| XM_024449789.1:c.1987T>G | XP_024305557.1:p.Ser663Ala | |
| XM_024449791.1:c.2431T>G | XP_024305559.1:p.Ser811Ala | |
| NM_001244189.2:c.2566T>G | NP_001231118.1:p.Ser856Ala | |
| NM_001244190.2:c.2362T>G | NP_001231119.1:p.Ser788Ala | |
| NM_001244192.2:c.2275T>G | NP_001231121.1:p.Ser759Ala | |
| NM_001329943.3:c.2407T>G MANE Select | NP_001316872.1:p.Ser803Ala | |
| NM_001329944.2:c.2407T>G | NP_001316873.1:p.Ser803Ala | |
| NM_001329945.2:c.2152T>G | NP_001316874.1:p.Ser718Ala | |
| NM_001329946.2:c.2407T>G | NP_001316875.1:p.Ser803Ala | |
| NM_001329947.2:c.2407T>G | NP_001316876.1:p.Ser803Ala | |
| NM_001364701.2:c.2152T>G | NP_001351630.1:p.Ser718Ala | |
| NM_014749.5:c.2179T>G | NP_055564.3:p.Ser727Ala | |
| NM_001244191.2:c.2152T>G | NP_001231120.1:p.Ser718Ala | |
| NM_001244193.2:c.1987T>G | NP_001231122.1:p.Ser663Ala |