Linked Data
gnomAD v4:
11-637518-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.637518T>A , CM000673.2:g.637518T>A | GRCh38 |
| NC_000011.9:g.637518T>A , CM000673.1:g.637518T>A | GRCh37 |
| NC_000011.8:g.627518T>A | NCBI36 |
| NG_021241.1:g.5214T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176183.6:c.214T>A MANE Select | ENSP00000176183.5:p.Phe72Ile | |
| ENST00000176183.5:c.214T>A | ENSP00000176183.5:p.Phe72Ile | |
| NM_000797.3:c.214T>A | NP_000788.2:p.Phe72Ile | |
| NM_000797.4:c.214T>A MANE Select | NP_000788.2:p.Phe72Ile |