Linked Data
ClinVar Variation Id:
30684
ClinVar RCV Id:
RCV000023661
dbSNP Id:
rs387906975
COSMIC:
COSM3433820
PubMed:
PMID:21397062
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103049788C>T , CM000672.2:g.103049788C>T | GRCh38 |
| NC_000010.10:g.104809545C>T , CM000672.1:g.104809545C>T | GRCh37 |
| NC_000010.9:g.104799535C>T | NCBI36 |
| NG_031932.1:g.136471C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369878.9:c.1703C>T MANE Select | ENSP00000358894.3:p.Thr568Ile | |
| ENST00000369878.8:c.1703C>T | ENSP00000358894.3:p.Thr568Ile | |
| ENST00000433628.2:c.1703C>T | ENSP00000392875.2:p.Thr568Ile | |
| NM_017649.4:c.1703C>T | NP_060119.3:p.Thr568Ile | |
| NM_199076.2:c.1703C>T | NP_951058.1:p.Thr568Ile | |
| XR_945780.1:n.1891C>T | ||
| XR_945781.1:n.1986C>T | ||
| XR_001747118.1:n.1891C>T | ||
| XR_001747119.2:n.1891C>T | ||
| XR_001747121.1:n.1986C>T | ||
| NM_017649.5:c.1703C>T MANE Select | NP_060119.3:p.Thr568Ile | |
| NM_199076.3:c.1703C>T | NP_951058.1:p.Thr568Ile |