Linked Data
ClinVar Variation Id:
194694
ClinVar RCV Id:
RCV000175122
dbSNP Id:
rs794727181
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188994039G>T , CM000664.2:g.188994039G>T | GRCh38 |
| NC_000002.11:g.189858765G>T , CM000664.1:g.189858765G>T | GRCh37 |
| NC_000002.10:g.189567010G>T | NCBI36 |
| NG_007404.1:g.24667G>T , LRG_3:g.24667G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1052G>T | ENSP00000415346.2:p.Gly351Val | |
| ENST00000304636.9:c.1151G>T MANE Select | ENSP00000304408.4:p.Gly384Val | |
| ENST00000304636.7:c.1151G>T | ENSP00000304408.3:p.Gly384Val | |
| ENST00000317840.9:c.1151G>T | ENSP00000315243.6:p.Gly384Val | |
| ENST00000450867.1:c.150G>T | ||
| NM_000090.3:c.1151G>T , LRG_3t1:c.1151G>T | NP_000081.1:p.Gly384Val | |
| NM_000090.4:c.1151G>T MANE Select | NP_000081.2:p.Gly384Val |