Linked Data
ClinVar Variation Id:
134258
dbSNP Id:
rs370085403
ExAC:
16:89833583 A / G
gnomAD v2:
16-89833583-A-G
gnomAD v3:
16-89767175-A-G
gnomAD v4:
16-89767175-A-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89767175A>G , CM000678.2:g.89767175A>G | GRCh38 |
| NC_000016.9:g.89833583A>G , CM000678.1:g.89833583A>G | GRCh37 |
| NC_000016.8:g.88361084A>G | NCBI36 |
| NG_011706.1:g.54483T>C , LRG_495:g.54483T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*1061T>C | ENSP00000512522.1:n.*1061T>C | |
| ENST00000564475.6:c.2567T>C | ENSP00000454977.2:p.Leu856Ser | |
| ENST00000567205.2:c.*188T>C | ENSP00000457027.2:n.*188T>C | |
| ENST00000567510.2:c.1266T>C | ENSP00000455969.1:n.1266T>C | |
| ENST00000568369.6:c.2567T>C | ENSP00000456829.1:p.Leu856Ser | |
| ENST00000696274.1:n.2528T>C | ||
| ENST00000696275.1:c.*1802T>C | ENSP00000512517.1:n.*1802T>C | |
| ENST00000696276.1:n.2610T>C | ||
| ENST00000696286.1:c.2567T>C | ENSP00000512523.1:p.Leu856Ser | |
| ENST00000696287.1:c.2567T>C | ENSP00000512524.1:p.Leu856Ser | |
| ENST00000696291.1:c.*2287T>C | ENSP00000512530.1:n.*2287T>C | |
| ENST00000389301.8:c.2567T>C MANE Select | ENSP00000373952.3:p.Leu856Ser | |
| ENST00000389301.7:c.2567T>C | ENSP00000373952.3:p.Leu856Ser | |
| ENST00000567205.1:c.380T>C | ENSP00000457027.1:n.380T>C | |
| ENST00000568369.5:c.2567T>C | ENSP00000456829.1:p.Leu856Ser | |
| NM_000135.2:c.2567T>C , LRG_495t1:c.2567T>C | NP_000126.2:p.Leu856Ser | |
| NM_001286167.1:c.2567T>C | NP_001273096.1:p.Leu856Ser | |
| XM_005256294.3:c.2567T>C | XP_005256351.1:p.Leu856Ser | |
| XM_011522945.1:c.2567T>C | XP_011521247.1:p.Leu856Ser | |
| XM_011522946.1:c.1544T>C | XP_011521248.1:p.Leu515Ser | |
| XM_011522947.1:c.1544T>C | XP_011521249.1:p.Leu515Ser | |
| XR_933244.1:n.2610T>C | ||
| XR_933245.1:n.2610T>C | ||
| XR_933246.1:n.2610T>C | ||
| XR_933247.1:n.2739T>C | ||
| NM_000135.3:c.2567T>C | NP_000126.2:p.Leu856Ser | |
| NM_001286167.2:c.2567T>C | NP_001273096.1:p.Leu856Ser | |
| XM_005256294.4:c.2567T>C | XP_005256351.1:p.Leu856Ser | |
| XM_011522945.2:c.2567T>C | XP_011521247.1:p.Leu856Ser | |
| XM_011522946.3:c.1544T>C | XP_011521248.1:p.Leu515Ser | |
| XM_011522947.2:c.1544T>C | XP_011521249.1:p.Leu515Ser | |
| XM_017023044.2:c.2567T>C | XP_016878533.1:p.Leu856Ser | |
| XM_017023045.1:c.2567T>C | XP_016878534.1:p.Leu856Ser | |
| XM_024450189.1:c.1544T>C | XP_024305957.1:p.Leu515Ser | |
| XR_001751866.1:n.2610T>C | ||
| XR_933244.2:n.2610T>C | ||
| XR_933245.2:n.2610T>C | ||
| XR_933247.2:n.2739T>C | ||
| NM_000135.4:c.2567T>C MANE Select | NP_000126.2:p.Leu856Ser | |
| NM_001286167.3:c.2567T>C | NP_001273096.1:p.Leu856Ser |