Linked Data
dbSNP Id:
rs657783
gnomAD v2:
1-54619337-C-T
gnomAD v3:
1-54153664-C-T
gnomAD v4:
1-54153664-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54153664C>T , CM000663.2:g.54153664C>T | GRCh38 |
| NC_000001.10:g.54619337C>T , CM000663.1:g.54619337C>T | GRCh37 |
| NC_000001.9:g.54391925C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000637610.1:c.304-483G>A | ENSP00000490901.1:n.304-483G>A | |
| ENST00000311841.7:c.*179-483G>A | ENSP00000457656.1:n.*179-483G>A | |
| ENST00000371330.1:c.-742G>A | ENSP00000360381.1:n.-742G>A | |
| ENST00000525949.1:n.93-8851G>A |