Linked Data
gnomAD v4:
18-59269252-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59269252G>A , CM000680.2:g.59269252G>A | GRCh38 |
| NC_000018.9:g.56936484G>A , CM000680.1:g.56936484G>A | GRCh37 |
| NC_000018.8:g.55087464G>A | NCBI36 |
| NG_013031.1:g.9142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334889.4:c.793C>T MANE Select | ENSP00000334813.3:p.Pro265Ser | |
| ENST00000256852.7:c.*224C>T | ENSP00000256852.7:n.*224C>T | |
| ENST00000334889.3:c.793C>T | ENSP00000334813.3:p.Pro265Ser | |
| NM_013435.2:c.793C>T | NP_038463.2:p.Pro265Ser | |
| NM_013435.3:c.793C>T MANE Select | NP_038463.2:p.Pro265Ser |