Linked Data
ClinVar Variation Id:
408201
dbSNP Id:
rs545742908
ExAC:
16:89809275 G / A
gnomAD v2:
16-89809275-G-A
gnomAD v3:
16-89742867-G-A
gnomAD v4:
16-89742867-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89742867G>A , CM000678.2:g.89742867G>A | GRCh38 |
| NC_000016.9:g.89809275G>A , CM000678.1:g.89809275G>A | GRCh37 |
| NC_000016.8:g.88336776G>A | NCBI36 |
| NG_011706.1:g.78791C>T , LRG_495:g.78791C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2176C>T | ENSP00000512522.1:n.*2176C>T | |
| ENST00000564475.6:c.3698C>T | ENSP00000454977.2:p.Ala1233Val | |
| ENST00000567510.2:c.2268C>T | ENSP00000455969.1:n.2268C>T | |
| ENST00000568369.6:c.3698C>T | ENSP00000456829.1:p.Ala1233Val | |
| ENST00000696274.1:n.3659C>T | ||
| ENST00000696275.1:c.*2933C>T | ENSP00000512517.1:n.*2933C>T | |
| ENST00000696286.1:c.3698C>T | ENSP00000512523.1:p.Ala1233Val | |
| ENST00000696287.1:c.3569C>T | ENSP00000512524.1:p.Ala1190Val | |
| ENST00000696291.1:c.*3130C>T | ENSP00000512530.1:n.*3130C>T | |
| ENST00000389301.8:c.3698C>T MANE Select | ENSP00000373952.3:p.Ala1233Val | |
| ENST00000305699.15:n.941C>T | ||
| ENST00000389301.7:c.3698C>T | ENSP00000373952.3:p.Ala1233Val | |
| ENST00000564475.5:c.28C>T | ||
| ENST00000564969.5:n.51-2001C>T | ||
| ENST00000567879.5:c.176C>T | ENSP00000457006.1:p.Ala59Val | |
| ENST00000568369.5:c.3698C>T | ENSP00000456829.1:p.Ala1233Val | |
| ENST00000568626.1:c.475-2001C>T | ||
| NM_000135.2:c.3698C>T , LRG_495t1:c.3698C>T | NP_000126.2:p.Ala1233Val | |
| NM_001286167.1:c.3698C>T | NP_001273096.1:p.Ala1233Val | |
| XM_005256294.3:c.3698C>T | XP_005256351.1:p.Ala1233Val | |
| XM_011522945.1:c.3569C>T | XP_011521247.1:p.Ala1190Val | |
| XM_011522946.1:c.2675C>T | XP_011521248.1:p.Ala892Val | |
| XM_011522947.1:c.2675C>T | XP_011521249.1:p.Ala892Val | |
| XR_933244.1:n.3741C>T | ||
| XR_933245.1:n.3670-2001C>T | ||
| XR_933246.1:n.3568C>T | ||
| NM_000135.3:c.3698C>T | NP_000126.2:p.Ala1233Val | |
| NM_001286167.2:c.3698C>T | NP_001273096.1:p.Ala1233Val | |
| XM_005256294.4:c.3698C>T | XP_005256351.1:p.Ala1233Val | |
| XM_011522945.2:c.3569C>T | XP_011521247.1:p.Ala1190Val | |
| XM_011522946.3:c.2675C>T | XP_011521248.1:p.Ala892Val | |
| XM_011522947.2:c.2675C>T | XP_011521249.1:p.Ala892Val | |
| XM_017023044.2:c.3569C>T | XP_016878533.1:p.Ala1190Val | |
| XM_024450189.1:c.2675C>T | XP_024305957.1:p.Ala892Val | |
| XR_001751866.1:n.3568C>T | ||
| XR_933244.2:n.3741C>T | ||
| XR_933245.2:n.3670-2001C>T | ||
| NM_000135.4:c.3698C>T MANE Select | NP_000126.2:p.Ala1233Val | |
| NM_001286167.3:c.3698C>T | NP_001273096.1:p.Ala1233Val |