Linked Data
ClinVar Variation Id:
1246555
ClinVar RCV Id:
RCV001641910
dbSNP Id:
rs8191439
ExAC:
11:67351297 G / A
gnomAD v2:
11-67351297-G-A
gnomAD v3:
11-67583826-G-A
gnomAD v4:
11-67583826-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67583826G>A , CM000673.2:g.67583826G>A | GRCh38 |
| NC_000011.9:g.67351297G>A , CM000673.1:g.67351297G>A | GRCh37 |
| NC_000011.8:g.67107873G>A | NCBI36 |
| NG_012075.1:g.5232G>A , LRG_723:g.5232G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.-18G>A | ENSP00000381604.1:n.-18G>A | |
| ENST00000398606.10:c.-18G>A MANE Select | ENSP00000381607.3:n.-18G>A | |
| ENST00000398603.5:c.-18G>A | ENSP00000381604.1:n.-18G>A | |
| ENST00000398606.7:c.-18G>A | ENSP00000381607.3:n.-18G>A | |
| ENST00000494593.1:n.5G>A | ||
| NM_000852.3:c.-18G>A , LRG_723t1:c.-18G>A | NP_000843.1:n.-18G>A | |
| NM_000852.4:c.-18G>A MANE Select | NP_000843.1:n.-18G>A |