Linked Data
ClinVar Variation Id:
2895500
ClinVar RCV Id:
RCV003627240
dbSNP Id:
rs190504111
ExAC:
18:29178519 C / T
gnomAD v2:
18-29178519-C-T
gnomAD v3:
18-31598556-C-T
gnomAD v4:
18-31598556-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598556C>T , CM000680.2:g.31598556C>T | GRCh38 |
| NC_000018.9:g.29178519C>T , CM000680.1:g.29178519C>T | GRCh37 |
| NC_000018.8:g.27432517C>T | NCBI36 |
| NG_009490.1:g.11790C>T , LRG_416:g.11790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.337-12C>T MANE Select | ENSP00000237014.4:n.337-12C>T | |
| ENST00000610404.5:c.241-12C>T | ENSP00000477599.2:n.241-12C>T | |
| ENST00000649620.1:c.337-12C>T | ENSP00000497927.1:n.337-12C>T | |
| ENST00000237014.7:c.337-12C>T | ENSP00000237014.3:n.337-12C>T | |
| ENST00000610404.4:c.451-12C>T | ENSP00000477599.1:n.451-12C>T | |
| ENST00000613781.1:c.337-12C>T | ENSP00000479174.1:n.337-12C>T | |
| NM_000371.3:c.337-12C>T , LRG_416t1:c.337-12C>T | NP_000362.1:n.337-12C>T | |
| NM_000371.4:c.337-12C>T MANE Select | NP_000362.1:n.337-12C>T |