Linked Data
ClinVar Variation Id:
1878454
ClinVar RCV Id:
RCV002510507
dbSNP Id:
rs769411080
gnomAD v4:
6-24503411-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503411G>A , CM000668.2:g.24503411G>A | GRCh38 |
| NC_000006.11:g.24503639G>A , CM000668.1:g.24503639G>A | GRCh37 |
| NC_000006.10:g.24611618G>A | NCBI36 |
| NG_008161.1:g.13443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.587G>A MANE Select | ENSP00000350191.3:p.Gly196Asp | |
| ENST00000672352.1:c.350G>A | ENSP00000500876.1:p.Gly117Asp | |
| ENST00000672557.1:c.505G>A | ||
| ENST00000672652.1:c.508G>A | ||
| ENST00000675422.1:n.1347G>A | ||
| ENST00000348925.2:c.587G>A | ENSP00000314649.3:p.Gly196Asp | |
| ENST00000357578.7:c.587G>A | ENSP00000350191.3:p.Gly196Asp | |
| ENST00000491546.5:c.503G>A | ENSP00000417687.1:p.Gly168Asp | |
| NM_001080.3:c.587G>A MANE Select | NP_001071.1:p.Gly196Asp | |
| NM_170740.1:c.587G>A | NP_733936.1:p.Gly196Asp | |
| NM_001368954.1:c.587G>A | NP_001355883.1:p.Gly196Asp |