Linked Data
gnomAD v4:
1-53196810-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196810A>G , CM000663.2:g.53196810A>G | GRCh38 |
| NC_000001.10:g.53662482A>G , CM000663.1:g.53662482A>G | GRCh37 |
| NC_000001.9:g.53435070A>G | NCBI36 |
| NG_008035.1:g.5382A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636239.1:c.-134A>G | ENSP00000490066.1:n.-134A>G | |
| ENST00000636867.1:c.-134A>G | ENSP00000489631.1:n.-134A>G | |
| ENST00000636891.1:c.-134A>G | ENSP00000490399.1:n.-134A>G | |
| ENST00000637252.1:c.-134A>G | ENSP00000490492.1:n.-134A>G | |
| ENST00000371486.3:c.-134A>G | ENSP00000360541.3:n.-134A>G | |
| NM_000098.2:c.-134A>G | NP_000089.1:n.-134A>G | |
| XM_005270484.1:c.-134A>G | XP_005270541.1:n.-134A>G | |
| NM_001330589.1:c.-134A>G | NP_001317518.1:n.-134A>G |