Linked Data
gnomAD v4:
1-53196804-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196804G>A , CM000663.2:g.53196804G>A | GRCh38 |
| NC_000001.10:g.53662476G>A , CM000663.1:g.53662476G>A | GRCh37 |
| NC_000001.9:g.53435064G>A | NCBI36 |
| NG_008035.1:g.5376G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636239.1:c.-140G>A | ENSP00000490066.1:n.-140G>A | |
| ENST00000636867.1:c.-140G>A | ENSP00000489631.1:n.-140G>A | |
| ENST00000636891.1:c.-140G>A | ENSP00000490399.1:n.-140G>A | |
| ENST00000637252.1:c.-140G>A | ENSP00000490492.1:n.-140G>A | |
| ENST00000371486.3:c.-140G>A | ENSP00000360541.3:n.-140G>A | |
| NM_000098.2:c.-140G>A | NP_000089.1:n.-140G>A | |
| XM_005270484.1:c.-140G>A | XP_005270541.1:n.-140G>A | |
| NM_001330589.1:c.-140G>A | NP_001317518.1:n.-140G>A |