Linked Data
ClinVar Variation Id:
213538
dbSNP Id:
rs863223655
gnomAD v4:
20-10644977-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644977G>A , CM000682.2:g.10644977G>A | GRCh38 |
| NC_000020.10:g.10625625G>A , CM000682.1:g.10625625G>A | GRCh37 |
| NC_000020.9:g.10573625G>A | NCBI36 |
| NG_007496.1:g.34070C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.2230C>T MANE Select | ENSP00000254958.4:p.Arg744Ter | |
| ENST00000617965.2:n.2819C>T | ||
| ENST00000254958.9:c.2230C>T | ENSP00000254958.4:p.Arg744Ter | |
| ENST00000423891.6:n.2096C>T | ||
| ENST00000488480.2:n.627C>T | ||
| NM_000214.2:c.2230C>T | NP_000205.1:p.Arg744Ter | |
| NM_000214.3:c.2230C>T MANE Select | NP_000205.1:p.Arg744Ter |