Linked Data
ClinVar Variation Id:
300680
dbSNP Id:
rs12418
gnomAD v2:
10-73773014-G-A
gnomAD v3:
10-72013256-G-A
gnomAD v4:
10-72013256-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72013256G>A , CM000672.2:g.72013256G>A | GRCh38 |
| NC_000010.10:g.73773014G>A , CM000672.1:g.73773014G>A | GRCh37 |
| NC_000010.9:g.73443020G>A | NCBI36 |
| NG_012635.1:g.53895G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373115.5:c.*4785G>A MANE Select | ENSP00000362207.4:n.*4785G>A | |
| ENST00000373115.4:c.*4785G>A | ENSP00000362207.4:n.*4785G>A | |
| NM_004273.4:c.*4785G>A | NP_004264.2:n.*4785G>A | |
| XM_006718075.2:c.*4785G>A | XP_006718138.1:n.*4785G>A | |
| XM_011540369.1:c.*4785G>A | XP_011538671.1:n.*4785G>A | |
| XM_006718075.4:c.*4785G>A | XP_006718138.1:n.*4785G>A | |
| XM_011540369.2:c.*4785G>A | XP_011538671.1:n.*4785G>A | |
| NM_004273.5:c.*4785G>A MANE Select | NP_004264.2:n.*4785G>A |