Linked Data
ClinVar Variation Id:
2985254
ClinVar RCV Id:
RCV003848381
MyVariant Identifiers:
chr8:g.19811821C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954310C>T , CM000670.2:g.19954310C>T | GRCh38 |
| NC_000008.10:g.19811821C>T , CM000670.1:g.19811821C>T | GRCh37 |
| NC_000008.9:g.19856101C>T | NCBI36 |
| NG_008855.1:g.20240C>T | |
| NG_008855.2:g.57594C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.732C>T MANE Select | ENSP00000497642.1:p.Asn244= | |
| ENST00000311322.8:c.732C>T | ENSP00000309757.6:p.Asn244= | |
| NM_000237.2:c.732C>T | NP_000228.1:p.Asn244= | |
| NM_000237.3:c.732C>T MANE Select | NP_000228.1:p.Asn244= |