Linked Data
ClinVar Variation Id:
66210
ClinVar RCV Id:
RCV000056556
dbSNP Id:
rs60271599
COSMIC:
COSM4042865
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516676A>G , CM000674.2:g.52516676A>G | GRCh38 |
| NC_000012.11:g.52910460A>G , CM000674.1:g.52910460A>G | GRCh37 |
| NC_000012.10:g.51196727A>G | NCBI36 |
| NG_008297.1:g.8784T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252242.9:c.1400T>C MANE Select | ENSP00000252242.4:p.Ile467Thr | |
| ENST00000252242.8:c.1400T>C | ENSP00000252242.4:p.Ile467Thr | |
| ENST00000548409.5:c.522T>C | ||
| ENST00000549511.5:n.607T>C | ||
| ENST00000552629.5:n.1498T>C | ||
| NM_000424.3:c.1400T>C | NP_000415.2:p.Ile467Thr | |
| NM_000424.4:c.1400T>C MANE Select | NP_000415.2:p.Ile467Thr |