Linked Data
ClinVar Variation Id:
965733
ClinVar RCV Id:
RCV001240249
dbSNP Id:
rs569279392
ExAC:
1:67519613 C / G
gnomAD v2:
1-67519613-C-G
gnomAD v3:
1-67053930-C-G
gnomAD v4:
1-67053930-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67053930C>G , CM000663.2:g.67053930C>G | GRCh38 |
| NC_000001.10:g.67519613C>G , CM000663.1:g.67519613C>G | GRCh37 |
| NC_000001.9:g.67292201C>G | NCBI36 |
| NG_012933.1:g.5468G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.84G>C MANE Select | ENSP00000235345.5:p.Glu28Asp | |
| ENST00000235345.5:c.84G>C | ENSP00000235345.5:p.Glu28Asp | |
| NM_015139.2:c.84G>C | NP_055954.1:p.Glu28Asp | |
| XM_006710478.1:c.84G>C | XP_006710541.1:p.Glu28Asp | |
| XM_011541070.1:c.84G>C | XP_011539372.1:p.Glu28Asp | |
| XM_006710478.2:c.84G>C | XP_006710541.1:p.Glu28Asp | |
| XM_011541070.2:c.84G>C | XP_011539372.1:p.Glu28Asp | |
| XR_001737057.2:n.494G>C | ||
| XR_001737058.2:n.487G>C | ||
| NM_015139.3:c.84G>C MANE Select | NP_055954.1:p.Glu28Asp |