Linked Data
ClinVar Variation Id:
414839
dbSNP Id:
rs1800346
ExAC:
16:89816194 G / A
gnomAD v2:
16-89816194-G-A
gnomAD v3:
16-89749786-G-A
gnomAD v4:
16-89749786-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89749786G>A , CM000678.2:g.89749786G>A | GRCh38 |
| NC_000016.9:g.89816194G>A , CM000678.1:g.89816194G>A | GRCh37 |
| NC_000016.8:g.88343695G>A | NCBI36 |
| NG_011706.1:g.71872C>T , LRG_495:g.71872C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*1661C>T | ENSP00000512522.1:n.*1661C>T | |
| ENST00000564475.6:c.3183C>T | ENSP00000454977.2:p.Ser1061= | |
| ENST00000567510.2:c.1753C>T | ENSP00000455969.1:n.1753C>T | |
| ENST00000568369.6:c.3183C>T | ENSP00000456829.1:p.Ser1061= | |
| ENST00000568983.6:n.202C>T | ||
| ENST00000696274.1:n.3144C>T | ||
| ENST00000696275.1:c.*2418C>T | ENSP00000512517.1:n.*2418C>T | |
| ENST00000696286.1:c.3183C>T | ENSP00000512523.1:p.Ser1061= | |
| ENST00000696287.1:c.3054C>T | ENSP00000512524.1:p.Ser1018= | |
| ENST00000696291.1:c.*2615C>T | ENSP00000512530.1:n.*2615C>T | |
| ENST00000389301.8:c.3183C>T MANE Select | ENSP00000373952.3:p.Ser1061= | |
| ENST00000305699.15:n.426C>T | ||
| ENST00000389301.7:c.3183C>T | ENSP00000373952.3:p.Ser1061= | |
| ENST00000561660.1:c.444-1019C>T | ||
| ENST00000563510.5:c.573C>T | ||
| ENST00000567988.5:c.435C>T | ||
| ENST00000568369.5:c.3183C>T | ENSP00000456829.1:p.Ser1061= | |
| ENST00000568626.1:c.31C>T | ||
| ENST00000568983.5:n.11C>T | ||
| NM_000135.2:c.3183C>T , LRG_495t1:c.3183C>T | NP_000126.2:p.Ser1061= | |
| NM_001286167.1:c.3183C>T | NP_001273096.1:p.Ser1061= | |
| XM_005256294.3:c.3183C>T | XP_005256351.1:p.Ser1061= | |
| XM_011522945.1:c.3054C>T | XP_011521247.1:p.Ser1018= | |
| XM_011522946.1:c.2160C>T | XP_011521248.1:p.Ser720= | |
| XM_011522947.1:c.2160C>T | XP_011521249.1:p.Ser720= | |
| XR_933244.1:n.3226C>T | ||
| XR_933245.1:n.3226C>T | ||
| XR_933246.1:n.3110-1019C>T | ||
| NM_000135.3:c.3183C>T | NP_000126.2:p.Ser1061= | |
| NM_001286167.2:c.3183C>T | NP_001273096.1:p.Ser1061= | |
| XM_005256294.4:c.3183C>T | XP_005256351.1:p.Ser1061= | |
| XM_011522945.2:c.3054C>T | XP_011521247.1:p.Ser1018= | |
| XM_011522946.3:c.2160C>T | XP_011521248.1:p.Ser720= | |
| XM_011522947.2:c.2160C>T | XP_011521249.1:p.Ser720= | |
| XM_017023044.2:c.3054C>T | XP_016878533.1:p.Ser1018= | |
| XM_024450189.1:c.2160C>T | XP_024305957.1:p.Ser720= | |
| XR_001751866.1:n.3110-1019C>T | ||
| XR_933244.2:n.3226C>T | ||
| XR_933245.2:n.3226C>T | ||
| NM_000135.4:c.3183C>T MANE Select | NP_000126.2:p.Ser1061= | |
| NM_001286167.3:c.3183C>T | NP_001273096.1:p.Ser1061= |