Linked Data
ClinVar Variation Id:
1570853
ClinVar RCV Id:
RCV002217263
dbSNP Id:
rs2135242778
gnomAD v4:
11-89178748-A-C
MyVariant Identifiers:
chr11:g.88911916A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178748A>C , CM000673.2:g.89178748A>C | GRCh38 |
| NC_000011.9:g.88911916A>C , CM000673.1:g.88911916A>C | GRCh37 |
| NC_000011.8:g.88551564A>C | NCBI36 |
| NG_008748.1:g.5877A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.795A>C MANE Select | ENSP00000263321.4:p.Pro265= | |
| ENST00000263321.5:c.795A>C | ENSP00000263321.4:p.Pro265= | |
| ENST00000526139.1:n.856A>C | ||
| NM_000372.4:c.795A>C | NP_000363.1:p.Pro265= | |
| XM_011542970.1:c.795A>C | XP_011541272.1:p.Pro265= | |
| XM_011542970.2:c.795A>C | XP_011541272.1:p.Pro265= | |
| XR_001748321.1:n.2718-65215T>G | ||
| XR_001748322.1:n.2733-65215T>G | ||
| NM_000372.5:c.795A>C MANE Select | NP_000363.1:p.Pro265= |