Linked Data
gnomAD v4:
5-53560633-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53560633C>T , CM000667.2:g.53560633C>T | GRCh38 |
| NC_000005.9:g.52856463C>T , CM000667.1:g.52856463C>T | GRCh37 |
| NC_000005.8:g.52892220C>T | NCBI36 |
| NG_008200.1:g.4999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507026.5:c.-30C>T | ENSP00000424993.1:n.-30C>T | |
| XM_005248525.3:c.-30C>T | XP_005248582.1:n.-30C>T | |
| XM_011543414.1:c.-30C>T | XP_011541716.1:n.-30C>T | |
| NM_001318051.1:c.-30C>T | NP_001304980.1:n.-30C>T | |
| NM_002495.3:c.-30C>T | NP_002486.1:n.-30C>T | |
| NR_134473.1:n.1C>T | ||
| NR_134474.1:n.1C>T | ||
| NR_134475.1:n.1C>T | ||
| XM_017009491.1:c.-30C>T | XP_016864980.1:n.-30C>T |