Linked Data
ClinVar Variation Id:
435857
dbSNP Id:
rs373417416
ExAC:
19:42872598 C / G
gnomAD v2:
19-42872598-C-G
gnomAD v3:
19-42368446-C-G
gnomAD v4:
19-42368446-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42368446C>G , CM000681.2:g.42368446C>G | GRCh38 |
| NC_000019.9:g.42872598C>G , CM000681.1:g.42872598C>G | GRCh37 |
| NC_000019.8:g.47564438C>G | NCBI36 |
| NG_033030.1:g.47838C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251268.11:c.6274-9C>G MANE Select | ENSP00000251268.5:n.6274-9C>G | |
| ENST00000251268.10:c.6274-9C>G | ENSP00000251268.5:n.6274-9C>G | |
| ENST00000334370.8:c.6073-9C>G | ENSP00000334219.4:n.6073-9C>G | |
| ENST00000378073.5:c.-812-9C>G | ENSP00000367313.4:n.-812-9C>G | |
| ENST00000598762.1:c.161+6233C>G | ||
| NM_001271938.1:c.6274-9C>G | NP_001258867.1:n.6274-9C>G | |
| NM_001410.2:c.6073-9C>G | NP_001401.2:n.6073-9C>G | |
| NM_001271938.2:c.6274-9C>G MANE Select | NP_001258867.1:n.6274-9C>G | |
| NM_001410.3:c.6073-9C>G | NP_001401.2:n.6073-9C>G |