Linked Data
ClinVar Variation Id:
1980789
dbSNP Id:
rs746981338
ExAC:
X:70344207 A / C
gnomAD v2:
X-70344207-A-C
gnomAD v4:
X-71124357-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71124357A>C , CM000685.2:g.71124357A>C | GRCh38 |
| NC_000023.10:g.70344207A>C , CM000685.1:g.70344207A>C | GRCh37 |
| NC_000023.9:g.70260932A>C | NCBI36 |
| NG_012808.1:g.10802A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.1823A>C | ENSP00000333125.8:p.Glu608Ala | |
| ENST00000374102.6:c.1943A>C | ENSP00000363215.2:p.Glu648Ala | |
| ENST00000686548.1:c.*1839A>C | ENSP00000509582.1:n.*1839A>C | |
| ENST00000687382.1:c.1943A>C | ENSP00000510724.1:p.Glu648Ala | |
| ENST00000688663.1:c.1943A>C | ENSP00000509348.1:p.Glu648Ala | |
| ENST00000689008.1:c.*2277A>C | ENSP00000509134.1:n.*2277A>C | |
| ENST00000689768.1:n.553A>C | ||
| ENST00000690145.1:c.1943A>C | ENSP00000508818.1:p.Glu648Ala | |
| ENST00000690242.1:c.1943A>C | ENSP00000510090.1:p.Glu648Ala | |
| ENST00000690828.1:n.2099A>C | ||
| ENST00000691385.1:n.1221A>C | ||
| ENST00000691426.1:n.174A>C | ||
| ENST00000691468.1:c.1943A>C | ENSP00000509011.1:p.Glu648Ala | |
| ENST00000692304.1:c.1943A>C | ENSP00000508427.1:p.Glu648Ala | |
| ENST00000692864.1:c.*2277A>C | ENSP00000510321.1:n.*2277A>C | |
| ENST00000693324.1:c.1943A>C | ENSP00000508643.1:p.Glu648Ala | |
| ENST00000374080.8:c.1943A>C MANE Select | ENSP00000363193.3:p.Glu648Ala | |
| ENST00000333646.10:c.1484A>C | ENSP00000333125.7:p.Glu495Ala | |
| ENST00000374080.7:c.1943A>C | ENSP00000363193.3:p.Glu648Ala | |
| ENST00000374102.5:c.1943A>C | ENSP00000363215.1:p.Glu648Ala | |
| NM_005120.2:c.1943A>C | NP_005111.2:p.Glu648Ala | |
| XM_005262317.1:c.1943A>C | XP_005262374.1:p.Glu648Ala | |
| XM_005262319.1:c.1943A>C | XP_005262376.1:p.Glu648Ala | |
| NM_005120.3:c.1943A>C MANE Select | NP_005111.2:p.Glu648Ala |