Linked Data
dbSNP Id:
rs568834044
ExAC:
6:52051229 G / A
gnomAD v2:
6-52051229-G-A
gnomAD v3:
6-52186431-G-A
gnomAD v4:
6-52186431-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52186431G>A , CM000668.2:g.52186431G>A | GRCh38 |
| NC_000006.11:g.52051229G>A , CM000668.1:g.52051229G>A | GRCh37 |
| NC_000006.10:g.52159188G>A | NCBI36 |
| NG_033021.1:g.5045G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648244.1:c.-1G>A MANE Select | ENSP00000497968.1:n.-1G>A | |
| ENST00000340057.1:c.-1G>A | ENSP00000344192.1:n.-1G>A | |
| NM_002190.2:c.-1G>A | NP_002181.1:n.-1G>A | |
| NM_002190.3:c.-1G>A MANE Select | NP_002181.1:n.-1G>A |