Linked Data
ClinVar Variation Id:
2745971
ClinVar RCV Id:
RCV003568305
dbSNP Id:
rs2135324481
gnomAD v3:
11-89284969-C-T
gnomAD v4:
11-89284969-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89284969C>T , CM000673.2:g.89284969C>T | GRCh38 |
| NC_000011.9:g.89018137C>T , CM000673.1:g.89018137C>T | GRCh37 |
| NC_000011.8:g.88657785C>T | NCBI36 |
| NG_008748.1:g.112098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1366+15C>T MANE Select | ENSP00000263321.4:n.1366+15C>T | |
| ENST00000263321.5:c.1366+15C>T | ENSP00000263321.4:n.1366+15C>T | |
| ENST00000528243.1:n.364+15C>T | ||
| NM_000372.4:c.1366+15C>T | NP_000363.1:n.1366+15C>T | |
| XM_011542970.1:c.1366+15C>T | XP_011541272.1:n.1366+15C>T | |
| XM_011542970.2:c.1366+15C>T | XP_011541272.1:n.1366+15C>T | |
| XR_001748321.1:n.2456+1065G>A | ||
| XR_001748322.1:n.2457+1065G>A | ||
| NM_000372.5:c.1366+15C>T MANE Select | NP_000363.1:n.1366+15C>T |