Linked Data
dbSNP Id:
rs201678794
ExAC:
14:77907410 G / T
gnomAD v2:
14-77907410-G-T
gnomAD v4:
14-77441067-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77441067G>T , CM000676.2:g.77441067G>T | GRCh38 |
| NC_000014.8:g.77907410G>T , CM000676.1:g.77907410G>T | GRCh37 |
| NC_000014.7:g.76977163G>T | NCBI36 |
| NG_023421.1:g.21574C>A | |
| NG_023421.2:g.21574C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557658.6:c.761C>A MANE Select | ENSP00000452191.1:p.Ala254Glu | |
| ENST00000327028.8:c.614C>A | ENSP00000313098.5:p.Ala205Glu | |
| ENST00000343765.6:c.761C>A | ENSP00000339122.2:p.Ala254Glu | |
| ENST00000448935.6:c.614C>A | ENSP00000404815.2:p.Ala205Glu | |
| ENST00000553576.5:n.173C>A | ||
| ENST00000553691.5:n.731C>A | ||
| ENST00000553888.5:c.761C>A | ENSP00000452181.1:p.Ala254Glu | |
| ENST00000555854.1:n.206C>A | ||
| ENST00000556412.4:c.839C>A | ENSP00000451857.1:p.Ala280Glu | |
| ENST00000557658.5:c.761C>A | ENSP00000452191.1:p.Ala254Glu | |
| NM_001193314.1:c.761C>A | NP_001180243.1:p.Ala254Glu | |
| NM_001193315.1:c.761C>A | NP_001180244.1:p.Ala254Glu | |
| NM_001193316.1:c.614C>A | NP_001180245.1:p.Ala205Glu | |
| NM_001193317.1:c.761C>A | NP_001180246.1:p.Ala254Glu | |
| NM_022067.3:c.761C>A | NP_071350.2:p.Ala254Glu | |
| XM_011537066.1:c.668C>A | XP_011535368.1:p.Ala223Glu | |
| XM_011537066.2:c.668C>A | XP_011535368.1:p.Ala223Glu | |
| XM_017021580.2:c.761C>A | XP_016877069.1:p.Ala254Glu | |
| XM_017021581.2:c.761C>A | XP_016877070.1:p.Ala254Glu | |
| XM_024449688.1:c.668C>A | XP_024305456.1:p.Ala223Glu | |
| XR_001750501.2:n.883C>A | ||
| NM_001193314.2:c.761C>A | NP_001180243.1:p.Ala254Glu | |
| NM_001193316.2:c.614C>A | NP_001180245.1:p.Ala205Glu | |
| NM_001193317.2:c.761C>A | NP_001180246.1:p.Ala254Glu | |
| NM_022067.4:c.761C>A | NP_071350.2:p.Ala254Glu | |
| NM_001193315.2:c.761C>A MANE Select | NP_001180244.1:p.Ala254Glu | |
| NM_001400324.1:c.614C>A | NP_001387253.1:p.Ala205Glu | |
| NM_001400325.1:c.614C>A | NP_001387254.1:p.Ala205Glu | |
| NM_001400326.1:c.761C>A | NP_001387255.1:p.Ala254Glu | |
| NM_001400327.1:c.728C>A | NP_001387256.1:p.Ala243Glu | |
| NM_001400330.1:c.761C>A | NP_001387259.1:p.Ala254Glu | |
| NM_001400331.1:c.761C>A | NP_001387260.1:p.Ala254Glu | |
| NM_001400332.1:c.761C>A | NP_001387261.1:p.Ala254Glu | |
| NM_001400333.1:c.668C>A | NP_001387262.1:p.Ala223Glu | |
| NM_001400334.1:c.668C>A | NP_001387263.1:p.Ala223Glu | |
| NM_001400335.1:c.761C>A | NP_001387264.1:p.Ala254Glu | |
| NM_001400336.1:c.761C>A | NP_001387265.1:p.Ala254Glu | |
| NM_001400337.1:c.521C>A | NP_001387266.1:p.Ala174Glu | |
| NM_001400338.1:c.734+1493C>A | NP_001387267.1:n.734+1493C>A | |
| NM_001400339.1:c.761C>A | NP_001387268.1:p.Ala254Glu | |
| NR_174476.1:n.868C>A |