Linked Data
ClinVar Variation Id:
2454162
ClinVar RCV Id:
RCV003172694
dbSNP Id:
rs182593459
ExAC:
8:19809284 C / T
gnomAD v2:
8-19809284-C-T
gnomAD v3:
8-19951773-C-T
gnomAD v4:
8-19951773-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951773C>T , CM000670.2:g.19951773C>T | GRCh38 |
| NC_000008.10:g.19809284C>T , CM000670.1:g.19809284C>T | GRCh37 |
| NC_000008.9:g.19853564C>T | NCBI36 |
| NG_008855.1:g.17703C>T | |
| NG_008855.2:g.55057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.254C>T MANE Select | ENSP00000497642.1:p.Thr85Ile | |
| ENST00000311322.8:c.254C>T | ENSP00000309757.6:p.Thr85Ile | |
| ENST00000520959.5:c.26C>T | ENSP00000428496.1:p.Thr9Ile | |
| ENST00000521994.1:n.511C>T | ||
| ENST00000522701.5:c.254C>T | ENSP00000428557.1:p.Thr85Ile | |
| ENST00000524029.5:c.254C>T | ENSP00000428237.1:p.Thr85Ile | |
| NM_000237.2:c.254C>T | NP_000228.1:p.Thr85Ile | |
| NM_000237.3:c.254C>T MANE Select | NP_000228.1:p.Thr85Ile |