Linked Data
ClinVar Variation Id:
242889
ClinVar RCV Id:
RCV000491018
dbSNP Id:
rs1114167296
gnomAD v3:
X-34656995-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.34656995C>G , CM000685.2:g.34656995C>G | GRCh38 |
| NC_000023.10:g.34675112C>G , CM000685.1:g.34675112C>G | GRCh37 |
| NC_000023.9:g.34585033C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275954.4:c.35G>C MANE Select | ENSP00000275954.3:p.Arg12Pro | |
| ENST00000275954.3:c.35G>C | ENSP00000275954.3:p.Arg12Pro | |
| NM_031442.3:c.35G>C | NP_113630.1:p.Arg12Pro | |
| NM_031442.4:c.35G>C MANE Select | NP_113630.1:p.Arg12Pro |