Linked Data
ClinVar Variation Id:
208600
dbSNP Id:
rs199947197
ExAC:
4:170345819 G / C
gnomAD v2:
4-170345819-G-C
gnomAD v3:
4-169424668-G-C
gnomAD v4:
4-169424668-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169424668G>C , CM000666.2:g.169424668G>C | GRCh38 |
| NC_000004.11:g.170345819G>C , CM000666.1:g.170345819G>C | GRCh37 |
| NC_000004.10:g.170582394G>C | NCBI36 |
| NG_027982.1:g.192960C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.2939C>G | ENSP00000508844.1:p.Ser980Ter | |
| ENST00000685677.1:n.2405C>G | ||
| ENST00000686697.1:c.2624C>G | ENSP00000508689.1:p.Ser875Ter | |
| ENST00000687054.1:n.3601C>G | ||
| ENST00000687528.1:c.*1842C>G | ENSP00000510228.1:n.*1842C>G | |
| ENST00000687643.1:c.3050C>G | ENSP00000509309.1:p.Ser1017Ter | |
| ENST00000688934.1:c.1130C>G | ENSP00000510760.1:p.Ser377Ter | |
| ENST00000690540.1:n.2557C>G | ||
| ENST00000507142.6:c.3107C>G MANE Select | ENSP00000424757.2:p.Ser1036Ter | |
| ENST00000638824.1:n.1235C>G | ||
| ENST00000439128.6:c.3023C>G | ENSP00000408020.2:p.Ser1008Ter | |
| ENST00000507142.5:c.3107C>G | ENSP00000424757.1:p.Ser1036Ter | |
| ENST00000510533.5:c.2891C>G | ENSP00000427653.1:p.Ser964Ter | |
| ENST00000511633.5:c.2975C>G | ENSP00000423332.1:p.Ser992Ter | |
| ENST00000512193.5:c.2816C>G | ENSP00000424938.1:p.Ser939Ter | |
| NM_001199397.1:c.3107C>G | NP_001186326.1:p.Ser1036Ter | |
| NM_001199398.1:c.2975C>G | NP_001186327.1:p.Ser992Ter | |
| NM_001199399.1:c.2816C>G | NP_001186328.1:p.Ser939Ter | |
| NM_001199400.1:c.2891C>G | NP_001186329.1:p.Ser964Ter | |
| NM_012224.2:c.3023C>G | NP_036356.1:p.Ser1008Ter | |
| XM_006714228.1:c.2930C>G | XP_006714291.1:p.Ser977Ter | |
| XM_011532003.1:c.3023C>G | XP_011530305.1:p.Ser1008Ter | |
| XM_011532004.1:c.2891C>G | XP_011530306.1:p.Ser964Ter | |
| XM_017008249.1:c.2486C>G | XP_016863738.1:p.Ser829Ter | |
| XM_017008251.1:c.2402C>G | XP_016863740.1:p.Ser801Ter | |
| XM_017008252.2:c.2402C>G | XP_016863741.1:p.Ser801Ter | |
| XM_017008253.1:c.1955C>G | XP_016863742.1:p.Ser652Ter | |
| XM_017008254.1:c.1751C>G | XP_016863743.1:p.Ser584Ter | |
| XM_024454065.1:c.2486C>G | XP_024309833.1:p.Ser829Ter | |
| XR_001741233.1:n.3392C>G | ||
| NM_001199397.3:c.3107C>G MANE Select | NP_001186326.1:p.Ser1036Ter | |
| NM_001199398.2:c.2975C>G | NP_001186327.1:p.Ser992Ter | |
| NM_001199399.2:c.2816C>G | NP_001186328.1:p.Ser939Ter | |
| NM_001199400.2:c.2891C>G | NP_001186329.1:p.Ser964Ter | |
| NM_001374418.1:c.3107C>G | NP_001361347.1:p.Ser1036Ter | |
| NM_001374419.1:c.3023C>G | NP_001361348.1:p.Ser1008Ter | |
| NM_001374420.1:c.2972C>G | NP_001361349.1:p.Ser991Ter | |
| NM_001374421.1:c.2624C>G | NP_001361350.1:p.Ser875Ter | |
| NM_012224.3:c.3023C>G | NP_036356.1:p.Ser1008Ter | |
| NR_164630.1:n.3569C>G | ||
| NM_001199398.3:c.2975C>G | NP_001186327.1:p.Ser992Ter | |
| NM_001199399.3:c.2816C>G | NP_001186328.1:p.Ser939Ter | |
| NM_001199400.3:c.2891C>G | NP_001186329.1:p.Ser964Ter | |
| NM_012224.4:c.3023C>G | NP_036356.1:p.Ser1008Ter |