Linked Data
ClinVar Variation Id:
304730
ClinVar RCV Id:
RCV000389304
dbSNP Id:
rs886048312
gnomAD v3:
11-45805490-T-C
gnomAD v4:
11-45805490-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45805490T>C , CM000673.2:g.45805490T>C | GRCh38 |
| NC_000011.9:g.45827041T>C , CM000673.1:g.45827041T>C | GRCh37 |
| NC_000011.8:g.45783617T>C | NCBI36 |
| NG_009875.1:g.6419T>C , LRG_107:g.6419T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.-31-320T>C | ENSP00000432145.2:n.-31-320T>C | |
| ENST00000314134.4:c.-312T>C MANE Select | ENSP00000313318.3:n.-312T>C | |
| ENST00000314134.3:c.-312T>C | ENSP00000313318.3:n.-312T>C | |
| ENST00000442528.2:c.-31-320T>C | ENSP00000412408.2:n.-31-320T>C | |
| ENST00000526817.1:c.-31-320T>C | ENSP00000432145.1:n.-31-320T>C | |
| ENST00000530471.1:c.-32+174T>C | ENSP00000432669.1:n.-32+174T>C | |
| NM_001145265.1:c.-31-320T>C | NP_001138737.1:n.-31-320T>C | |
| NM_001145266.1:c.-31-320T>C | NP_001138738.1:n.-31-320T>C | |
| NM_018389.4:c.-312T>C , LRG_107t1:c.-312T>C | NP_060859.4:n.-312T>C | |
| XM_011520203.1:c.-312T>C | XP_011518505.1:n.-312T>C | |
| XM_011520203.3:c.-312T>C | XP_011518505.1:n.-312T>C | |
| NM_001145265.2:c.-31-320T>C | NP_001138737.1:n.-31-320T>C | |
| NM_018389.5:c.-312T>C MANE Select | NP_060859.4:n.-312T>C |