Linked Data
ClinVar Variation Id:
1565101
ClinVar RCV Id:
RCV002205142
dbSNP Id:
rs748078419
ExAC:
19:1495280 C / G
gnomAD v2:
19-1495280-C-G
gnomAD v4:
19-1495281-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1495281C>G , CM000681.2:g.1495281C>G | GRCh38 |
| NC_000019.9:g.1495280C>G , CM000681.1:g.1495280C>G | GRCh37 |
| NC_000019.8:g.1446280C>G | NCBI36 |
| NG_055254.1:g.9277C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233596.8:c.116-13C>G MANE Select | ENSP00000233596.2:n.116-13C>G | |
| ENST00000395479.10:c.116-13C>G MANE Plus Clinical | ENSP00000378861.5:n.116-13C>G | |
| ENST00000233596.7:c.116-13C>G | ENSP00000233596.2:n.116-13C>G | |
| ENST00000591735.2:n.220-13C>G | ||
| NM_138393.1:c.116-13C>G | NP_612402.1:n.116-13C>G | |
| NM_001329556.2:c.116-13C>G | NP_001316485.1:n.116-13C>G | |
| NM_138393.3:c.116-13C>G | NP_612402.1:n.116-13C>G | |
| NM_138393.4:c.116-13C>G MANE Select | NP_612402.1:n.116-13C>G | |
| NM_001329556.3:c.116-13C>G MANE Plus Clinical | NP_001316485.1:n.116-13C>G |