Linked Data
ClinVar Variation Id:
4046
dbSNP Id:
rs121908085
gnomAD v2:
2-1507728-G-A
gnomAD v3:
2-1503956-G-A
gnomAD v4:
2-1503956-G-A
COSMIC:
COSM1325885
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1503956G>A , CM000664.2:g.1503956G>A | GRCh38 |
| NC_000002.11:g.1507728G>A , CM000664.1:g.1507728G>A | GRCh37 |
| NC_000002.10:g.1486735G>A | NCBI36 |
| NG_011581.1:g.95494G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329066.9:c.2395G>A MANE Select | ENSP00000329869.4:p.Glu799Lys | |
| ENST00000329066.8:c.2395G>A | ENSP00000329869.4:p.Glu799Lys | |
| ENST00000345913.8:c.2395G>A | ENSP00000318820.7:p.Glu799Lys | |
| ENST00000346956.7:c.2386+7191G>A | ENSP00000263886.6:n.2386+7191G>A | |
| ENST00000382198.5:c.1876G>A | ENSP00000371633.1:p.Glu626Lys | |
| ENST00000382201.7:c.2224G>A | ENSP00000371636.3:p.Glu742Lys | |
| ENST00000422464.5:c.2173+7191G>A | ENSP00000405788.1:n.2173+7191G>A | |
| ENST00000425083.3:n.58G>A | ||
| ENST00000446278.5:c.819G>A | ||
| ENST00000462973.5:n.424+9917G>A | ||
| ENST00000469607.3:c.808+7191G>A | ENSP00000419461.1:n.808+7191G>A | |
| ENST00000497517.6:n.686G>A | ||
| NM_000547.5:c.2395G>A | NP_000538.3:p.Glu799Lys | |
| NM_001206744.1:c.2395G>A | NP_001193673.1:p.Glu799Lys | |
| NM_001206745.1:c.2224G>A | NP_001193674.1:p.Glu742Lys | |
| NM_175719.3:c.2224G>A | NP_783650.1:p.Glu742Lys | |
| NM_175721.3:c.2386+7191G>A | NP_783652.1:n.2386+7191G>A | |
| NM_175722.3:c.1876G>A | NP_783653.1:p.Glu626Lys | |
| XM_011510379.1:c.2386+7191G>A | XP_011508681.1:n.2386+7191G>A | |
| XM_011510380.1:c.2395G>A | XP_011508682.1:p.Glu799Lys | |
| XM_011510381.1:c.2215+7191G>A | XP_011508683.1:n.2215+7191G>A | |
| XR_922681.1:n.2396G>A | ||
| XM_011510380.3:c.2431G>A | XP_011508682.2:p.Glu811Lys | |
| XM_024453085.1:c.2422+7191G>A | XP_024308853.1:n.2422+7191G>A | |
| XM_024453086.1:c.2431G>A | XP_024308854.1:p.Glu811Lys | |
| XM_024453087.1:c.2386+7191G>A | XP_024308855.1:n.2386+7191G>A | |
| XM_024453088.1:c.2386+7191G>A | XP_024308856.1:n.2386+7191G>A | |
| XM_024453089.1:c.2386+7191G>A | XP_024308857.1:n.2386+7191G>A | |
| XM_024453090.1:c.2422+7191G>A | XP_024308858.1:n.2422+7191G>A | |
| XM_024453091.1:c.2260G>A | XP_024308859.1:p.Glu754Lys | |
| XM_024453092.1:c.2251+7191G>A | XP_024308860.1:n.2251+7191G>A | |
| XM_024453093.1:c.1912G>A | XP_024308861.1:p.Glu638Lys | |
| NM_001206744.2:c.2395G>A MANE Select | NP_001193673.1:p.Glu799Lys | |
| NM_000547.6:c.2395G>A | NP_000538.3:p.Glu799Lys | |
| NM_001206745.2:c.2224G>A | NP_001193674.1:p.Glu742Lys | |
| NM_175719.4:c.2224G>A | NP_783650.1:p.Glu742Lys |