Linked Data
gnomAD v4:
15-22825318-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22825318C>A , CM000677.2:g.22825318C>A | GRCh38 |
| NC_000015.9:g.23047750G>T , CM000677.1:g.23047750G>T | GRCh37 |
| NC_000015.8:g.20599191G>T | NCBI36 |
| NG_009056.1:g.44094C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337435.9:c.*1079C>A MANE Select | ENSP00000337452.4:n.*1079C>A | |
| ENST00000337435.8:c.*1079C>A | ENSP00000337452.4:n.*1079C>A | |
| ENST00000437912.6:c.*1079C>A | ENSP00000393962.2:n.*1079C>A | |
| ENST00000559448.5:c.2041C>A | ||
| NM_001142275.1:c.*1079C>A | NP_001135747.1:n.*1079C>A | |
| NM_144599.4:c.*1079C>A | NP_653200.2:n.*1079C>A | |
| NM_144599.5:c.*1079C>A MANE Select | NP_653200.2:n.*1079C>A |