Linked Data
ClinVar Variation Id:
355355
dbSNP Id:
rs191654371
ExAC:
6:132211689 G / A
gnomAD v2:
6-132211689-G-A
gnomAD v4:
6-131890549-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890549G>A , CM000668.2:g.131890549G>A | GRCh38 |
| NC_000006.11:g.132211689G>A , CM000668.1:g.132211689G>A | GRCh37 |
| NC_000006.10:g.132253382G>A | NCBI36 |
| NG_008206.1:g.87534G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1247G>A | ||
| ENST00000647893.1:c.*38G>A MANE Select | ENSP00000498074.1:n.*38G>A | |
| ENST00000360971.6:c.*38G>A | ENSP00000354238.2:n.*38G>A | |
| ENST00000513998.5:c.*1653G>A | ENSP00000422424.1:n.*1653G>A | |
| NM_006208.2:c.*38G>A | NP_006199.2:n.*38G>A | |
| XM_011535896.1:c.*38G>A | XP_011534198.1:n.*38G>A | |
| NM_006208.3:c.*38G>A MANE Select | NP_006199.2:n.*38G>A |