Linked Data
ClinVar Variation Id:
177863
ClinVar RCV Id:
RCV000154501
dbSNP Id:
rs727504365
PubMed:
PMID:21533915
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151865A>G , CM000681.2:g.55151865A>G | GRCh38 |
| NC_000019.9:g.55663233A>G , CM000681.1:g.55663233A>G | GRCh37 |
| NC_000019.8:g.60355045A>G | NCBI36 |
| NG_007866.2:g.10868T>C , LRG_432:g.10868T>C | |
| NG_011829.2:g.2374T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.602T>C MANE Select | ENSP00000341838.5:p.Met201Thr | |
| ENST00000665070.1:c.635T>C | ENSP00000499482.1:p.Met212Thr | |
| ENST00000344887.9:c.602T>C | ENSP00000341838.5:p.Met201Thr | |
| ENST00000585806.5:n.601T>C | ||
| ENST00000588882.1:c.527T>C | ENSP00000466729.1:p.Met176Thr | |
| ENST00000589864.1:n.430T>C | ||
| NM_000363.4:c.602T>C , LRG_432t1:c.602T>C | NP_000354.4:p.Met201Thr | |
| NM_000363.5:c.602T>C MANE Select | NP_000354.4:p.Met201Thr |