Linked Data
gnomAD v4:
18-60371269-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371269G>T , CM000680.2:g.60371269G>T | GRCh38 |
| NC_000018.9:g.58038502G>T , CM000680.1:g.58038502G>T | GRCh37 |
| NC_000018.8:g.56189482G>T | NCBI36 |
| NG_016441.1:g.6500C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.*82C>A MANE Select | ENSP00000299766.3:n.*82C>A | |
| ENST00000299766.4:c.*82C>A | ENSP00000299766.3:n.*82C>A | |
| NM_005912.3:c.*82C>A MANE Select | NP_005903.2:n.*82C>A |