Linked Data
ClinVar Variation Id:
988059
ClinVar RCV Id:
RCV001269451
dbSNP Id:
rs1909057323
gnomAD v4:
16-88810090-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810090T>C , CM000678.2:g.88810090T>C | GRCh38 |
| NC_000016.9:g.88876498T>C , CM000678.1:g.88876498T>C | GRCh37 |
| NC_000016.8:g.87403999T>C | NCBI36 |
| NG_008013.1:g.6845A>G | |
| NG_028266.1:g.11313T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.380A>G MANE Select | ENSP00000367615.3:p.Asp127Gly | |
| ENST00000378364.7:c.380A>G | ENSP00000367615.3:p.Asp127Gly | |
| ENST00000426324.6:c.380A>G | ENSP00000397007.2:p.Asp127Gly | |
| ENST00000562464.1:n.390A>G | ||
| ENST00000563655.5:c.299A>G | ENSP00000456012.1:p.Asp100Gly | |
| ENST00000567057.5:n.179A>G | ||
| ENST00000567391.5:c.*54A>G | ENSP00000457964.1:n.*54A>G | |
| ENST00000567713.5:c.321+333A>G | ENSP00000455749.1:n.321+333A>G | |
| ENST00000568319.5:c.*54A>G | ENSP00000456905.1:n.*54A>G | |
| ENST00000568575.1:n.309A>G | ||
| ENST00000569616.1:c.378A>G | ||
| NM_000485.2:c.380A>G | NP_000476.1:p.Asp127Gly | |
| NM_001030018.1:c.380A>G | NP_001025189.1:p.Asp127Gly | |
| NM_000485.3:c.380A>G MANE Select | NP_000476.1:p.Asp127Gly | |
| NM_001030018.2:c.380A>G | NP_001025189.1:p.Asp127Gly |