Linked Data
ClinVar Variation Id:
1337458
ClinVar RCV Id:
RCV001820472
dbSNP Id:
rs2133796823
MyVariant Identifiers:
chr11:g.22646583C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625037C>T , CM000673.2:g.22625037C>T | GRCh38 |
| NC_000011.9:g.22646583C>T , CM000673.1:g.22646583C>T | GRCh37 |
| NC_000011.8:g.22603159C>T | NCBI36 |
| NG_007425.1:g.5805G>A , LRG_527:g.5805G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.774G>A MANE Select | ENSP00000330875.3:p.Gly258= | |
| ENST00000327470.4:c.774G>A | ENSP00000330875.3:p.Gly258= | |
| NM_022725.3:c.774G>A , LRG_527t1:c.774G>A | NP_073562.1:p.Gly258= | |
| NM_022725.4:c.774G>A MANE Select | NP_073562.1:p.Gly258= |