Linked Data
gnomAD v4:
15-84839823-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84839823T>C , CM000677.2:g.84839823T>C | GRCh38 |
| NC_000015.9:g.85383054T>C , CM000677.1:g.85383054T>C | GRCh37 |
| NC_000015.8:g.83184058T>C | NCBI36 |
| NG_054748.1:g.28193T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.544T>C MANE Select | ENSP00000258888.6:p.Phe182Leu | |
| ENST00000258888.5:c.1150T>C | ENSP00000258888.5:p.Phe384Leu | |
| NM_020778.4:c.1150T>C | NP_065829.3:p.Phe384Leu | |
| NM_020778.5:c.544T>C MANE Select | NP_065829.4:p.Phe182Leu |