Linked Data
gnomAD v4:
6-53545240-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53545240C>T , CM000668.2:g.53545240C>T | GRCh38 |
| NC_000006.11:g.53410038C>T , CM000668.1:g.53410038C>T | GRCh37 |
| NC_000006.10:g.53517997C>T | NCBI36 |
| NG_012071.1:g.4794G>A | |
| NG_012071.2:g.4890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616923.5:c.-10+2816G>A | ENSP00000482756.2:n.-10+2816G>A | |
| ENST00000505197.1:c.-10+18877G>A | ENSP00000427403.1:n.-10+18877G>A |