Linked Data
ClinVar Variation Id:
236173
ClinVar RCV Id:
RCV000225065
dbSNP Id:
rs878853200
gnomAD v4:
11-101488883-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101488883C>A , CM000673.2:g.101488883C>A | GRCh38 |
| NC_000011.9:g.101359614C>A , CM000673.1:g.101359614C>A | GRCh37 |
| NC_000011.8:g.100864824C>A | NCBI36 |
| NG_011476.1:g.100046G>T | |
| NG_011476.2:g.100046G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344327.8:c.1293+54G>T MANE Select | ENSP00000340913.3:n.1293+54G>T | |
| ENST00000344327.7:c.1293+54G>T | ENSP00000340913.3:n.1293+54G>T | |
| ENST00000348423.8:c.946-5718G>T | ENSP00000343672.4:n.946-5718G>T | |
| ENST00000360497.4:c.1128+2673G>T | ENSP00000353687.4:n.1128+2673G>T | |
| ENST00000532133.5:c.1293+54G>T | ENSP00000435574.1:n.1293+54G>T | |
| NM_004621.5:c.1293+54G>T | NP_004612.2:n.1293+54G>T | |
| XM_006718898.2:c.1293+54G>T | XP_006718961.1:n.1293+54G>T | |
| XM_011542968.1:c.1128+54G>T | XP_011541270.1:n.1128+54G>T | |
| XM_011542969.1:c.1293+54G>T | XP_011541271.1:n.1293+54G>T | |
| XM_011542968.3:c.1128+54G>T | XP_011541270.1:n.1128+54G>T | |
| XM_017018221.2:c.946-5718G>T | XP_016873710.1:n.946-5718G>T | |
| XR_001747948.2:n.1649+54G>T | ||
| NM_004621.6:c.1293+54G>T MANE Select | NP_004612.2:n.1293+54G>T |