Linked Data
ClinVar Variation Id:
2939718
ClinVar RCV Id:
RCV003794884
dbSNP Id:
rs1219390670
gnomAD v3:
5-149978025-C-T
gnomAD v4:
5-149978025-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978025C>T , CM000667.2:g.149978025C>T | GRCh38 |
| NC_000005.9:g.149357588C>T , CM000667.1:g.149357588C>T | GRCh37 |
| NC_000005.8:g.149337781C>T | NCBI36 |
| NG_007147.2:g.19143C>T , LRG_684:g.19143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.605C>T | ||
| ENST00000286298.5:c.373C>T MANE Select | ENSP00000286298.4:p.Gln125Ter | |
| ENST00000286298.4:c.373C>T | ENSP00000286298.4:p.Gln125Ter | |
| ENST00000503336.1:c.46C>T | ENSP00000426053.1:p.Gln16Ter | |
| NM_000112.3:c.373C>T , LRG_684t1:c.373C>T | NP_000103.2:p.Gln125Ter | |
| XM_017009191.2:c.373C>T | XP_016864680.1:p.Gln125Ter | |
| NM_000112.4:c.373C>T MANE Select | NP_000103.2:p.Gln125Ter |