Linked Data
ClinVar Variation Id:
295652
dbSNP Id:
rs150643803
ExAC:
1:220356104 A / T
gnomAD v2:
1-220356104-A-T
gnomAD v3:
1-220182762-A-T
gnomAD v4:
1-220182762-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220182762A>T , CM000663.2:g.220182762A>T | GRCh38 |
| NC_000001.10:g.220356104A>T , CM000663.1:g.220356104A>T | GRCh37 |
| NC_000001.9:g.218422727A>T | NCBI36 |
| NG_015837.1:g.94740T>A | |
| NG_015837.2:g.94740T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685286.1:c.2168T>A | ENSP00000509457.1:p.Val723Glu | |
| ENST00000685664.1:c.2168T>A | ENSP00000509121.1:p.Val723Glu | |
| ENST00000686381.1:c.1904T>A | ENSP00000509555.1:p.Val635Glu | |
| ENST00000687065.1:c.1904T>A | ENSP00000510408.1:p.Val635Glu | |
| ENST00000687394.1:n.2274T>A | ||
| ENST00000687647.1:c.1904T>A | ENSP00000509205.1:p.Val635Glu | |
| ENST00000688035.1:n.2583T>A | ||
| ENST00000690315.1:c.2069T>A | ENSP00000509834.1:p.Val690Glu | |
| ENST00000690373.1:n.2507T>A | ||
| ENST00000690824.1:c.2168T>A | ENSP00000510709.1:p.Val723Glu | |
| ENST00000691661.1:c.2180T>A | ENSP00000510185.1:p.Val727Glu | |
| ENST00000691862.1:c.2066T>A | ENSP00000509291.1:p.Val689Glu | |
| ENST00000692813.1:c.2168T>A | ENSP00000509080.1:p.Val723Glu | |
| ENST00000692972.1:c.2243T>A | ENSP00000510753.1:p.Val748Glu | |
| ENST00000693454.1:n.1378T>A | ||
| ENST00000693602.1:n.2261T>A | ||
| ENST00000358951.7:c.2168T>A MANE Select | ENSP00000351832.2:p.Val723Glu | |
| ENST00000358951.6:c.2168T>A | ENSP00000351832.2:p.Val723Glu | |
| NM_012414.3:c.2168T>A | NP_036546.2:p.Val723Glu | |
| NM_012414.4:c.2168T>A MANE Select | NP_036546.2:p.Val723Glu |