Linked Data
ClinVar Variation Id:
305738
dbSNP Id:
rs73490568
gnomAD v2:
11-67374410-G-A
gnomAD v3:
11-67606939-G-A
gnomAD v4:
11-67606939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67606939G>A , CM000673.2:g.67606939G>A | GRCh38 |
| NC_000011.9:g.67374410G>A , CM000673.1:g.67374410G>A | GRCh37 |
| NC_000011.8:g.67130986G>A | NCBI36 |
| NG_013353.1:g.5088G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.-66G>A MANE Select | ENSP00000322450.6:n.-66G>A | |
| ENST00000647561.1:c.-66G>A | ENSP00000497587.1:n.-66G>A | |
| ENST00000322776.10:c.-66G>A | ENSP00000322450.6:n.-66G>A | |
| ENST00000528328.1:c.-244G>A | ENSP00000436906.1:n.-244G>A | |
| ENST00000532244.5:c.-365G>A | ENSP00000435202.1:n.-365G>A | |
| ENST00000532303.5:c.-286G>A | ENSP00000432015.1:n.-286G>A | |
| NM_001166102.1:c.-66G>A | NP_001159574.1:n.-66G>A | |
| NM_007103.3:c.-66G>A | NP_009034.2:n.-66G>A | |
| NM_001166102.2:c.-66G>A | NP_001159574.1:n.-66G>A | |
| NM_007103.4:c.-66G>A MANE Select | NP_009034.2:n.-66G>A |