Linked Data
ClinVar Variation Id:
13307
ClinVar RCV Id:
RCV002468928
dbSNP Id:
rs121918481
PubMed:
PMID:1421398
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46728004T>C , CM000673.2:g.46728004T>C | GRCh38 |
| NC_000011.9:g.46749554T>C , CM000673.1:g.46749554T>C | GRCh37 |
| NC_000011.8:g.46706130T>C | NCBI36 |
| NG_008953.1:g.13812T>C , LRG_551:g.13812T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311907.10:c.1139T>C MANE Select | ENSP00000308541.5:p.Met380Thr | |
| ENST00000311907.9:c.1139T>C | ENSP00000308541.5:p.Met380Thr | |
| ENST00000530231.5:c.1139T>C | ENSP00000433907.1:p.Met380Thr | |
| NM_000506.3:c.1139T>C | NP_000497.1:p.Met380Thr | |
| NM_000506.4:c.1139T>C , LRG_551t1:c.1139T>C | NP_000497.1:p.Met380Thr | |
| NM_001311257.1:c.1091T>C | NP_001298186.1:p.Met364Thr | |
| XR_428840.2:n.1183T>C | ||
| XR_428840.4:n.1174T>C | ||
| NM_000506.5:c.1139T>C MANE Select | NP_000497.1:p.Met380Thr | |
| NM_001311257.2:c.1091T>C | NP_001298186.1:p.Met364Thr |