Linked Data
dbSNP Id:
rs891552708
gnomAD v2:
6-52051185-G-A
gnomAD v3:
6-52186387-G-A
gnomAD v4:
6-52186387-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52186387G>A , CM000668.2:g.52186387G>A | GRCh38 |
| NC_000006.11:g.52051185G>A , CM000668.1:g.52051185G>A | GRCh37 |
| NC_000006.10:g.52159144G>A | NCBI36 |
| NG_033021.1:g.5001G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648244.1:c.-45G>A MANE Select | ENSP00000497968.1:n.-45G>A | |
| ENST00000340057.1:c.-45G>A | ENSP00000344192.1:n.-45G>A | |
| NM_002190.2:c.-45G>A | NP_002181.1:n.-45G>A | |
| NM_002190.3:c.-45G>A MANE Select | NP_002181.1:n.-45G>A |