Linked Data
ClinVar Variation Id:
347835
ClinVar RCV Id:
RCV000286364
dbSNP Id:
rs749800940
gnomAD v2:
4-155533891-C-A
gnomAD v3:
4-154612739-C-A
gnomAD v4:
4-154612739-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154612739C>A , CM000666.2:g.154612739C>A | GRCh38 |
| NC_000004.11:g.155533891C>A , CM000666.1:g.155533891C>A | GRCh37 |
| NC_000004.10:g.155753341C>A | NCBI36 |
| NG_008834.1:g.5012G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393846.6:c.-232+6G>T | ENSP00000377429.2:n.-232+6G>T | |
| ENST00000404648.7:c.-130G>T | ENSP00000384860.3:n.-130G>T | |
| ENST00000443553.5:c.-198+6G>T | ENSP00000407562.1:n.-198+6G>T | |
| NM_000509.4:c.-130G>T | NP_000500.2:n.-130G>T | |
| NM_000509.5:c.-130G>T | NP_000500.2:n.-130G>T | |
| NM_021870.2:c.-130G>T | NP_068656.2:n.-130G>T |