Linked Data
dbSNP Id:
rs765242250
ExAC:
15:80445413 T / A
gnomAD v2:
15-80445413-T-A
gnomAD v4:
15-80153071-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80153071T>A , CM000677.2:g.80153071T>A | GRCh38 |
| NC_000015.9:g.80445413T>A , CM000677.1:g.80445413T>A | GRCh37 |
| NC_000015.8:g.78232468T>A | NCBI36 |
| NG_012833.1:g.5073T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558767.6:c.17T>A | ENSP00000507680.1:p.Val6Glu | |
| ENST00000682012.1:n.92T>A | ||
| ENST00000684363.1:c.17T>A | ENSP00000507314.1:p.Val6Glu | |
| ENST00000684569.1:n.62T>A | ||
| ENST00000561421.6:c.17T>A MANE Select | ENSP00000453347.2:p.Val6Glu | |
| ENST00000261755.9:c.17T>A | ENSP00000261755.5:p.Val6Glu | |
| ENST00000407106.5:c.17T>A | ENSP00000385080.1:p.Val6Glu | |
| ENST00000537726.5:n.99T>A | ||
| ENST00000558022.5:c.17T>A | ENSP00000453152.1:p.Val6Glu | |
| ENST00000558767.5:n.278T>A | ||
| ENST00000561369.1:n.97T>A | ||
| ENST00000561421.5:c.17T>A | ENSP00000453347.1:p.Val6Glu | |
| NM_000137.2:c.17T>A | NP_000128.1:p.Val6Glu | |
| XM_024449872.1:c.17T>A | XP_024305640.1:p.Val6Glu | |
| NM_000137.4:c.17T>A MANE Select | NP_000128.1:p.Val6Glu | |
| NM_001374377.1:c.17T>A | NP_001361306.1:p.Val6Glu | |
| NM_001374380.1:c.17T>A | NP_001361309.1:p.Val6Glu |