Linked Data
ClinVar Variation Id:
321337
dbSNP Id:
rs200270574
ExAC:
16:89811492 C / T
gnomAD v2:
16-89811492-C-T
gnomAD v3:
16-89745084-C-T
gnomAD v4:
16-89745084-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89745084C>T , CM000678.2:g.89745084C>T | GRCh38 |
| NC_000016.9:g.89811492C>T , CM000678.1:g.89811492C>T | GRCh37 |
| NC_000016.8:g.88338993C>T | NCBI36 |
| NG_011706.1:g.76574G>A , LRG_495:g.76574G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*1992-13G>A | ENSP00000512522.1:n.*1992-13G>A | |
| ENST00000564475.6:c.3514-13G>A | ENSP00000454977.2:n.3514-13G>A | |
| ENST00000567510.2:c.2084-13G>A | ENSP00000455969.1:n.2084-13G>A | |
| ENST00000568369.6:c.3514-13G>A | ENSP00000456829.1:n.3514-13G>A | |
| ENST00000568983.6:n.533-13G>A | ||
| ENST00000696274.1:n.3475-13G>A | ||
| ENST00000696275.1:c.*2749-13G>A | ENSP00000512517.1:n.*2749-13G>A | |
| ENST00000696286.1:c.3514-13G>A | ENSP00000512523.1:n.3514-13G>A | |
| ENST00000696287.1:c.3385-13G>A | ENSP00000512524.1:n.3385-13G>A | |
| ENST00000696291.1:c.*2946-13G>A | ENSP00000512530.1:n.*2946-13G>A | |
| ENST00000389301.8:c.3514-13G>A MANE Select | ENSP00000373952.3:n.3514-13G>A | |
| ENST00000305699.15:n.757-13G>A | ||
| ENST00000389301.7:c.3514-13G>A | ENSP00000373952.3:n.3514-13G>A | |
| ENST00000561660.1:c.718-13G>A | ||
| ENST00000567988.5:c.766-13G>A | ||
| ENST00000568369.5:c.3514-13G>A | ENSP00000456829.1:n.3514-13G>A | |
| ENST00000568626.1:c.362-13G>A | ||
| ENST00000568983.5:n.342-13G>A | ||
| NM_000135.2:c.3514-13G>A , LRG_495t1:c.3514-13G>A | NP_000126.2:n.3514-13G>A | |
| NM_001286167.1:c.3514-13G>A | NP_001273096.1:n.3514-13G>A | |
| XM_005256294.3:c.3514-13G>A | XP_005256351.1:n.3514-13G>A | |
| XM_011522945.1:c.3385-13G>A | XP_011521247.1:n.3385-13G>A | |
| XM_011522946.1:c.2491-13G>A | XP_011521248.1:n.2491-13G>A | |
| XM_011522947.1:c.2491-13G>A | XP_011521249.1:n.2491-13G>A | |
| XR_933244.1:n.3557-13G>A | ||
| XR_933245.1:n.3557-13G>A | ||
| XR_933246.1:n.3384-13G>A | ||
| NM_000135.3:c.3514-13G>A | NP_000126.2:n.3514-13G>A | |
| NM_001286167.2:c.3514-13G>A | NP_001273096.1:n.3514-13G>A | |
| XM_005256294.4:c.3514-13G>A | XP_005256351.1:n.3514-13G>A | |
| XM_011522945.2:c.3385-13G>A | XP_011521247.1:n.3385-13G>A | |
| XM_011522946.3:c.2491-13G>A | XP_011521248.1:n.2491-13G>A | |
| XM_011522947.2:c.2491-13G>A | XP_011521249.1:n.2491-13G>A | |
| XM_017023044.2:c.3385-13G>A | XP_016878533.1:n.3385-13G>A | |
| XM_024450189.1:c.2491-13G>A | XP_024305957.1:n.2491-13G>A | |
| XR_001751866.1:n.3384-13G>A | ||
| XR_933244.2:n.3557-13G>A | ||
| XR_933245.2:n.3557-13G>A | ||
| NM_000135.4:c.3514-13G>A MANE Select | NP_000126.2:n.3514-13G>A | |
| NM_001286167.3:c.3514-13G>A | NP_001273096.1:n.3514-13G>A |