Linked Data
ClinVar Variation Id:
5929
ClinVar RCV Id:
RCV000006292
dbSNP Id:
rs104893724
PubMed:
PMID:10390358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388331T>G , CM000665.2:g.190388331T>G | GRCh38 |
| NC_000003.11:g.190106120T>G , CM000665.1:g.190106120T>G | GRCh37 |
| NC_000003.10:g.191588814T>G | NCBI36 |
| NG_008149.1:g.5280T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264734.3:c.2T>G MANE Select | ENSP00000264734.3:p.Met1Arg | |
| ENST00000456423.2:c.2T>G | ENSP00000414136.2:p.Met1Arg | |
| ENST00000264734.2:c.212T>G | ENSP00000264734.2:p.Met71Arg | |
| ENST00000456423.1:c.212T>G | ENSP00000414136.1:p.Met71Arg | |
| ENST00000468220.1:n.306+13728T>G | ||
| NM_006580.3:c.212T>G | NP_006571.1:p.Met71Arg | |
| NM_001378492.1:c.2T>G | NP_001365421.1:p.Met1Arg | |
| NM_001378493.1:c.2T>G | NP_001365422.1:p.Met1Arg | |
| NM_006580.4:c.2T>G MANE Select | NP_006571.2:p.Met1Arg |