Linked Data
ClinVar Variation Id:
255229
dbSNP Id:
rs6500452
ExAC:
16:89858505 T / C
gnomAD v2:
16-89858505-T-C
gnomAD v3:
16-89792097-T-C
gnomAD v4:
16-89792097-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89792097T>C , CM000678.2:g.89792097T>C | GRCh38 |
| NC_000016.9:g.89858505T>C , CM000678.1:g.89858505T>C | GRCh37 |
| NC_000016.8:g.88386006T>C | NCBI36 |
| NG_011706.1:g.29561A>G , LRG_495:g.29561A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.1084-29A>G | ENSP00000512522.1:n.1084-29A>G | |
| ENST00000563767.2:n.979-29A>G | ||
| ENST00000564475.6:c.1084-29A>G | ENSP00000454977.2:n.1084-29A>G | |
| ENST00000567205.2:c.1084-29A>G | ENSP00000457027.2:n.1084-29A>G | |
| ENST00000567284.7:n.1127-29A>G | ||
| ENST00000567621.6:c.*71-29A>G | ENSP00000456762.2:n.*71-29A>G | |
| ENST00000568369.6:c.1084-29A>G | ENSP00000456829.1:n.1084-29A>G | |
| ENST00000696274.1:n.1045-29A>G | ||
| ENST00000696275.1:c.*319-29A>G | ENSP00000512517.1:n.*319-29A>G | |
| ENST00000696276.1:n.1127-29A>G | ||
| ENST00000696277.1:c.1084-29A>G | ENSP00000512518.1:n.1084-29A>G | |
| ENST00000696286.1:c.1084-29A>G | ENSP00000512523.1:n.1084-29A>G | |
| ENST00000696287.1:c.1084-29A>G | ENSP00000512524.1:n.1084-29A>G | |
| ENST00000696291.1:c.*428-29A>G | ENSP00000512530.1:n.*428-29A>G | |
| ENST00000696292.1:c.1164-29A>G | ENSP00000512531.1:n.1164-29A>G | |
| ENST00000389301.8:c.1084-29A>G MANE Select | ENSP00000373952.3:n.1084-29A>G | |
| ENST00000389301.7:c.1084-29A>G | ENSP00000373952.3:n.1084-29A>G | |
| ENST00000566133.1:n.256-29A>G | ||
| ENST00000567621.5:c.448-29A>G | ||
| ENST00000568369.5:c.1084-29A>G | ENSP00000456829.1:n.1084-29A>G | |
| NM_000135.2:c.1084-29A>G , LRG_495t1:c.1084-29A>G | NP_000126.2:n.1084-29A>G | |
| NM_001286167.1:c.1084-29A>G | NP_001273096.1:n.1084-29A>G | |
| XM_005256294.3:c.1084-29A>G | XP_005256351.1:n.1084-29A>G | |
| XM_011522945.1:c.1084-29A>G | XP_011521247.1:n.1084-29A>G | |
| XM_011522946.1:c.61-29A>G | XP_011521248.1:n.61-29A>G | |
| XM_011522947.1:c.61-29A>G | XP_011521249.1:n.61-29A>G | |
| XM_011522948.1:c.1084-29A>G | XP_011521250.1:n.1084-29A>G | |
| XR_933244.1:n.1127-29A>G | ||
| XR_933245.1:n.1127-29A>G | ||
| XR_933246.1:n.1127-29A>G | ||
| XR_933247.1:n.1127-29A>G | ||
| NM_000135.3:c.1084-29A>G | NP_000126.2:n.1084-29A>G | |
| NM_001286167.2:c.1084-29A>G | NP_001273096.1:n.1084-29A>G | |
| XM_005256294.4:c.1084-29A>G | XP_005256351.1:n.1084-29A>G | |
| XM_011522945.2:c.1084-29A>G | XP_011521247.1:n.1084-29A>G | |
| XM_011522946.3:c.61-29A>G | XP_011521248.1:n.61-29A>G | |
| XM_011522947.2:c.61-29A>G | XP_011521249.1:n.61-29A>G | |
| XM_011522948.2:c.1084-29A>G | XP_011521250.1:n.1084-29A>G | |
| XM_017023044.2:c.1084-29A>G | XP_016878533.1:n.1084-29A>G | |
| XM_017023045.1:c.1084-29A>G | XP_016878534.1:n.1084-29A>G | |
| XM_017023046.1:c.1084-29A>G | XP_016878535.1:n.1084-29A>G | |
| XM_024450189.1:c.61-29A>G | XP_024305957.1:n.61-29A>G | |
| XR_001751866.1:n.1127-29A>G | ||
| XR_001751867.1:n.1127-29A>G | ||
| XR_001751868.2:n.1014-29A>G | ||
| XR_002957793.1:n.1256-29A>G | ||
| XR_933244.2:n.1127-29A>G | ||
| XR_933245.2:n.1127-29A>G | ||
| XR_933247.2:n.1127-29A>G | ||
| NM_000135.4:c.1084-29A>G MANE Select | NP_000126.2:n.1084-29A>G | |
| NM_001286167.3:c.1084-29A>G | NP_001273096.1:n.1084-29A>G |