Linked Data
ClinVar Variation Id:
11707
ClinVar RCV Id:
RCV000012473
dbSNP Id:
rs104894796
PubMed:
PMID:15124102
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68838820C>T , CM000685.2:g.68838820C>T | GRCh38 |
| NC_000023.10:g.68058663C>T , CM000685.1:g.68058663C>T | GRCh37 |
| NC_000023.9:g.67975388C>T | NCBI36 |
| NG_008887.1:g.14824C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000204961.5:c.332C>T MANE Select | ENSP00000204961.4:p.Thr111Ile | |
| ENST00000204961.4:c.332C>T | ENSP00000204961.4:p.Thr111Ile | |
| NM_004429.4:c.332C>T | NP_004420.1:p.Thr111Ile | |
| NM_004429.5:c.332C>T MANE Select | NP_004420.1:p.Thr111Ile |