Linked Data
ClinVar Variation Id:
13434
ClinVar RCV Id:
RCV000014376
RCV000036376
RCV000714134
RCV000618448
RCV000990084
RCV001170385
RCV001173303
RCV003993656
dbSNP Id:
rs28933981
ExAC:
18:29178610 C / T
gnomAD v2:
18-29178610-C-T
gnomAD v3:
18-31598647-C-T
gnomAD v4:
18-31598647-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598647C>T , CM000680.2:g.31598647C>T | GRCh38 |
| NC_000018.9:g.29178610C>T , CM000680.1:g.29178610C>T | GRCh37 |
| NC_000018.8:g.27432608C>T | NCBI36 |
| NG_009490.1:g.11881C>T , LRG_416:g.11881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.416C>T MANE Select | ENSP00000237014.4:p.Thr139Met | |
| ENST00000610404.5:c.320C>T | ENSP00000477599.2:p.Thr107Met | |
| ENST00000649620.1:c.416C>T | ENSP00000497927.1:p.Thr139Met | |
| ENST00000237014.7:c.416C>T | ENSP00000237014.3:p.Thr139Met | |
| ENST00000610404.4:c.530C>T | ENSP00000477599.1:p.Thr177Met | |
| ENST00000613781.1:c.392C>T | ENSP00000479174.1:p.Thr131Met | |
| NM_000371.3:c.416C>T , LRG_416t1:c.416C>T | NP_000362.1:p.Thr139Met | |
| NM_000371.4:c.416C>T MANE Select | NP_000362.1:p.Thr139Met |