Linked Data
ClinVar Variation Id:
16027
ClinVar RCV Id:
RCV000030911
dbSNP Id:
rs104893839
PubMed:
PMID:10022417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67744659G>T , CM000666.2:g.67744659G>T | GRCh38 |
| NC_000004.11:g.68610377G>T , CM000666.1:g.68610377G>T | GRCh37 |
| NC_000004.10:g.68292972G>T | NCBI36 |
| NG_009293.1:g.16428C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000226413.5:c.651C>A MANE Select | ENSP00000226413.5:p.Ser217Arg | |
| ENST00000226413.4:c.651C>A | ENSP00000226413.4:p.Ser217Arg | |
| ENST00000420975.2:c.523C>A | ENSP00000397561.2:p.Leu175Met | |
| NM_000406.2:c.651C>A | NP_000397.1:p.Ser217Arg | |
| NM_001012763.1:c.523C>A | NP_001012781.1:p.Leu175Met | |
| NM_000406.3:c.651C>A MANE Select | NP_000397.1:p.Ser217Arg | |
| NM_001012763.2:c.523C>A | NP_001012781.1:p.Leu175Met |