Linked Data
ClinVar Variation Id:
1111273
ClinVar RCV Id:
RCV001437814
dbSNP Id:
rs1474778814
gnomAD v3:
8-19954280-G-T
gnomAD v4:
8-19954280-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954280G>T , CM000670.2:g.19954280G>T | GRCh38 |
| NC_000008.10:g.19811791G>T , CM000670.1:g.19811791G>T | GRCh37 |
| NC_000008.9:g.19856071G>T | NCBI36 |
| NG_008855.1:g.20210G>T | |
| NG_008855.2:g.57564G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.702G>T MANE Select | ENSP00000497642.1:p.Pro234= | |
| ENST00000311322.8:c.702G>T | ENSP00000309757.6:p.Pro234= | |
| NM_000237.2:c.702G>T | NP_000228.1:p.Pro234= | |
| NM_000237.3:c.702G>T MANE Select | NP_000228.1:p.Pro234= |