Linked Data
gnomAD v4:
6-53545242-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53545242G>A , CM000668.2:g.53545242G>A | GRCh38 |
| NC_000006.11:g.53410040G>A , CM000668.1:g.53410040G>A | GRCh37 |
| NC_000006.10:g.53517999G>A | NCBI36 |
| NG_012071.1:g.4792C>T | |
| NG_012071.2:g.4888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616923.5:c.-10+2814C>T | ENSP00000482756.2:n.-10+2814C>T | |
| ENST00000505197.1:c.-10+18875C>T | ENSP00000427403.1:n.-10+18875C>T |