Linked Data
dbSNP Id:
rs771480019
ExAC:
6:52051209 A / G
gnomAD v2:
6-52051209-A-G
gnomAD v4:
6-52186411-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52186411A>G , CM000668.2:g.52186411A>G | GRCh38 |
| NC_000006.11:g.52051209A>G , CM000668.1:g.52051209A>G | GRCh37 |
| NC_000006.10:g.52159168A>G | NCBI36 |
| NG_033021.1:g.5025A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648244.1:c.-21A>G MANE Select | ENSP00000497968.1:n.-21A>G | |
| ENST00000340057.1:c.-21A>G | ENSP00000344192.1:n.-21A>G | |
| NM_002190.2:c.-21A>G | NP_002181.1:n.-21A>G | |
| NM_002190.3:c.-21A>G MANE Select | NP_002181.1:n.-21A>G |