Linked Data
ClinVar Variation Id:
2740684
ClinVar RCV Id:
RCV003523554
gnomAD v4:
11-22625040-G-C
MyVariant Identifiers:
chr11:g.22646586G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625040G>C , CM000673.2:g.22625040G>C | GRCh38 |
| NC_000011.9:g.22646586G>C , CM000673.1:g.22646586G>C | GRCh37 |
| NC_000011.8:g.22603162G>C | NCBI36 |
| NG_007425.1:g.5802C>G , LRG_527:g.5802C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.771C>G MANE Select | ENSP00000330875.3:p.Ala257= | |
| ENST00000327470.4:c.771C>G | ENSP00000330875.3:p.Ala257= | |
| NM_022725.3:c.771C>G , LRG_527t1:c.771C>G | NP_073562.1:p.Ala257= | |
| NM_022725.4:c.771C>G MANE Select | NP_073562.1:p.Ala257= |