Linked Data
gnomAD v4:
15-44711490-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711490A>C , CM000677.2:g.44711490A>C | GRCh38 |
| NC_000015.9:g.45003688A>C , CM000677.1:g.45003688A>C | GRCh37 |
| NC_000015.8:g.42790980A>C | NCBI36 |
| NG_012920.1:g.5004A>C | |
| NG_012920.2:g.5014A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.83+50A>C | ||
| ENST00000544417.5:c.-57A>C | ENSP00000437604.2:n.-57A>C | |
| ENST00000558401.5:c.-57A>C | ENSP00000452780.1:n.-57A>C | |
| ENST00000559720.5:n.4A>C | ||
| NM_004048.2:c.-57A>C | NP_004039.1:n.-57A>C |