Linked Data
ClinVar Variation Id:
732087
ClinVar RCV Id:
RCV001448349
dbSNP Id:
rs1598067510
MyVariant Identifiers:
chr16:g.89811459C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89745051C>T , CM000678.2:g.89745051C>T | GRCh38 |
| NC_000016.9:g.89811459C>T , CM000678.1:g.89811459C>T | GRCh37 |
| NC_000016.8:g.88338960C>T | NCBI36 |
| NG_011706.1:g.76607G>A , LRG_495:g.76607G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2012G>A | ENSP00000512522.1:n.*2012G>A | |
| ENST00000564475.6:c.3534G>A | ENSP00000454977.2:p.Glu1178= | |
| ENST00000567510.2:c.2104G>A | ENSP00000455969.1:n.2104G>A | |
| ENST00000568369.6:c.3534G>A | ENSP00000456829.1:p.Glu1178= | |
| ENST00000568983.6:n.553G>A | ||
| ENST00000696274.1:n.3495G>A | ||
| ENST00000696275.1:c.*2769G>A | ENSP00000512517.1:n.*2769G>A | |
| ENST00000696286.1:c.3534G>A | ENSP00000512523.1:p.Glu1178= | |
| ENST00000696287.1:c.3405G>A | ENSP00000512524.1:p.Glu1135= | |
| ENST00000696291.1:c.*2966G>A | ENSP00000512530.1:n.*2966G>A | |
| ENST00000389301.8:c.3534G>A MANE Select | ENSP00000373952.3:p.Glu1178= | |
| ENST00000305699.15:n.777G>A | ||
| ENST00000389301.7:c.3534G>A | ENSP00000373952.3:p.Glu1178= | |
| ENST00000561660.1:c.738G>A | ||
| ENST00000567879.5:c.12G>A | ENSP00000457006.1:p.Glu4= | |
| ENST00000567988.5:c.786G>A | ||
| ENST00000568369.5:c.3534G>A | ENSP00000456829.1:p.Glu1178= | |
| ENST00000568626.1:c.382G>A | ||
| ENST00000568983.5:n.362G>A | ||
| NM_000135.2:c.3534G>A , LRG_495t1:c.3534G>A | NP_000126.2:p.Glu1178= | |
| NM_001286167.1:c.3534G>A | NP_001273096.1:p.Glu1178= | |
| XM_005256294.3:c.3534G>A | XP_005256351.1:p.Glu1178= | |
| XM_011522945.1:c.3405G>A | XP_011521247.1:p.Glu1135= | |
| XM_011522946.1:c.2511G>A | XP_011521248.1:p.Glu837= | |
| XM_011522947.1:c.2511G>A | XP_011521249.1:p.Glu837= | |
| XR_933244.1:n.3577G>A | ||
| XR_933245.1:n.3577G>A | ||
| XR_933246.1:n.3404G>A | ||
| NM_000135.3:c.3534G>A | NP_000126.2:p.Glu1178= | |
| NM_001286167.2:c.3534G>A | NP_001273096.1:p.Glu1178= | |
| XM_005256294.4:c.3534G>A | XP_005256351.1:p.Glu1178= | |
| XM_011522945.2:c.3405G>A | XP_011521247.1:p.Glu1135= | |
| XM_011522946.3:c.2511G>A | XP_011521248.1:p.Glu837= | |
| XM_011522947.2:c.2511G>A | XP_011521249.1:p.Glu837= | |
| XM_017023044.2:c.3405G>A | XP_016878533.1:p.Glu1135= | |
| XM_024450189.1:c.2511G>A | XP_024305957.1:p.Glu837= | |
| XR_001751866.1:n.3404G>A | ||
| XR_933244.2:n.3577G>A | ||
| XR_933245.2:n.3577G>A | ||
| NM_000135.4:c.3534G>A MANE Select | NP_000126.2:p.Glu1178= | |
| NM_001286167.3:c.3534G>A | NP_001273096.1:p.Glu1178= |