Linked Data
ClinVar Variation Id:
2441229
ClinVar RCV Id:
RCV003147058
dbSNP Id:
rs528243561
ExAC:
8:19811769 T / C
gnomAD v2:
8-19811769-T-C
gnomAD v3:
8-19954258-T-C
gnomAD v4:
8-19954258-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954258T>C , CM000670.2:g.19954258T>C | GRCh38 |
| NC_000008.10:g.19811769T>C , CM000670.1:g.19811769T>C | GRCh37 |
| NC_000008.9:g.19856049T>C | NCBI36 |
| NG_008855.1:g.20188T>C | |
| NG_008855.2:g.57542T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.680T>C MANE Select | ENSP00000497642.1:p.Val227Ala | |
| ENST00000311322.8:c.680T>C | ENSP00000309757.6:p.Val227Ala | |
| NM_000237.2:c.680T>C | NP_000228.1:p.Val227Ala | |
| NM_000237.3:c.680T>C MANE Select | NP_000228.1:p.Val227Ala |