Linked Data
gnomAD v4:
15-40932024-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40932024A>C , CM000677.2:g.40932024A>C | GRCh38 |
| NC_000015.9:g.41224222A>C , CM000677.1:g.41224222A>C | GRCh37 |
| NC_000015.8:g.39011514A>C | NCBI36 |
| NG_046974.1:g.7692A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.659-147A>C MANE Select | ENSP00000249749.5:n.659-147A>C | |
| ENST00000249749.6:c.659-147A>C | ENSP00000249749.5:n.659-147A>C | |
| ENST00000559440.1:n.888-147A>C | ||
| NM_019074.3:c.659-147A>C | NP_061947.1:n.659-147A>C | |
| NM_019074.4:c.659-147A>C MANE Select | NP_061947.1:n.659-147A>C |