Linked Data
ClinVar Variation Id:
197136
ClinVar RCV Id:
RCV000178080
RCV000724798
RCV001173307
RCV001086449
RCV001170384
RCV002354458
RCV004553003
dbSNP Id:
rs143906738
ExAC:
18:29178578 C / T
gnomAD v2:
18-29178578-C-T
gnomAD v3:
18-31598615-C-T
gnomAD v4:
18-31598615-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598615C>T , CM000680.2:g.31598615C>T | GRCh38 |
| NC_000018.9:g.29178578C>T , CM000680.1:g.29178578C>T | GRCh37 |
| NC_000018.8:g.27432576C>T | NCBI36 |
| NG_009490.1:g.11849C>T , LRG_416:g.11849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.384C>T MANE Select | ENSP00000237014.4:p.Ala128= | |
| ENST00000610404.5:c.288C>T | ENSP00000477599.2:p.Ala96= | |
| ENST00000649620.1:c.384C>T | ENSP00000497927.1:p.Ala128= | |
| ENST00000237014.7:c.384C>T | ENSP00000237014.3:p.Ala128= | |
| ENST00000610404.4:c.498C>T | ENSP00000477599.1:p.Ala166= | |
| ENST00000613781.1:c.375+9C>T | ENSP00000479174.1:n.375+9C>T | |
| NM_000371.3:c.384C>T , LRG_416t1:c.384C>T | NP_000362.1:p.Ala128= | |
| NM_000371.4:c.384C>T MANE Select | NP_000362.1:p.Ala128= |