Linked Data
ClinVar Variation Id:
2437213
ClinVar RCV Id:
RCV003141133
dbSNP Id:
rs61758082
ExAC:
2:1481315 C / A
gnomAD v2:
2-1481315-C-A
gnomAD v3:
2-1477543-C-A
gnomAD v4:
2-1477543-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1477543C>A , CM000664.2:g.1477543C>A | GRCh38 |
| NC_000002.11:g.1481315C>A , CM000664.1:g.1481315C>A | GRCh37 |
| NC_000002.10:g.1460322C>A | NCBI36 |
| NG_011581.1:g.69081C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329066.9:c.1277C>A MANE Select | ENSP00000329869.4:p.Ala426Glu | |
| ENST00000329066.8:c.1277C>A | ENSP00000329869.4:p.Ala426Glu | |
| ENST00000345913.8:c.1277C>A | ENSP00000318820.7:p.Ala426Glu | |
| ENST00000346956.7:c.1277C>A | ENSP00000263886.6:p.Ala426Glu | |
| ENST00000382198.5:c.820-7053C>A | ENSP00000371633.1:n.820-7053C>A | |
| ENST00000382201.7:c.1277C>A | ENSP00000371636.3:p.Ala426Glu | |
| ENST00000422464.5:c.1064C>A | ENSP00000405788.1:p.Ala355Glu | |
| ENST00000497517.6:n.181-7053C>A | ||
| NM_000547.5:c.1277C>A | NP_000538.3:p.Ala426Glu | |
| NM_001206744.1:c.1277C>A | NP_001193673.1:p.Ala426Glu | |
| NM_001206745.1:c.1277C>A | NP_001193674.1:p.Ala426Glu | |
| NM_175719.3:c.1277C>A | NP_783650.1:p.Ala426Glu | |
| NM_175721.3:c.1277C>A | NP_783652.1:p.Ala426Glu | |
| NM_175722.3:c.820-7053C>A | NP_783653.1:n.820-7053C>A | |
| XM_011510379.1:c.1277C>A | XP_011508681.1:p.Ala426Glu | |
| XM_011510380.1:c.1277C>A | XP_011508682.1:p.Ala426Glu | |
| XM_011510381.1:c.1277C>A | XP_011508683.1:p.Ala426Glu | |
| XM_011510382.1:c.1277C>A | XP_011508684.1:p.Ala426Glu | |
| XR_922681.1:n.1278C>A | ||
| XM_011510380.3:c.1313C>A | XP_011508682.2:p.Ala438Glu | |
| XM_024453085.1:c.1313C>A | XP_024308853.1:p.Ala438Glu | |
| XM_024453086.1:c.1313C>A | XP_024308854.1:p.Ala438Glu | |
| XM_024453087.1:c.1277C>A | XP_024308855.1:p.Ala426Glu | |
| XM_024453088.1:c.1277C>A | XP_024308856.1:p.Ala426Glu | |
| XM_024453089.1:c.1277C>A | XP_024308857.1:p.Ala426Glu | |
| XM_024453090.1:c.1313C>A | XP_024308858.1:p.Ala438Glu | |
| XM_024453091.1:c.1313C>A | XP_024308859.1:p.Ala438Glu | |
| XM_024453092.1:c.1313C>A | XP_024308860.1:p.Ala438Glu | |
| XM_024453093.1:c.856-7053C>A | XP_024308861.1:n.856-7053C>A | |
| NM_001206744.2:c.1277C>A MANE Select | NP_001193673.1:p.Ala426Glu | |
| NM_000547.6:c.1277C>A | NP_000538.3:p.Ala426Glu | |
| NM_001206745.2:c.1277C>A | NP_001193674.1:p.Ala426Glu | |
| NM_175719.4:c.1277C>A | NP_783650.1:p.Ala426Glu |