Linked Data
gnomAD v4:
11-69648086-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648086T>G , CM000673.2:g.69648086T>G | GRCh38 |
| NC_000011.9:g.69462854T>G , CM000673.1:g.69462854T>G | GRCh37 |
| NC_000011.8:g.69172035T>G | NCBI36 |
| NG_007375.1:g.11982T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.667T>G MANE Select | ENSP00000227507.2:p.Phe223Val | |
| ENST00000227507.2:c.667T>G | ENSP00000227507.2:p.Phe223Val | |
| ENST00000536559.1:c.*87T>G | ENSP00000438482.1:n.*87T>G | |
| ENST00000542367.1:n.130T>G | ||
| ENST00000545484.1:n.373T>G | ||
| NM_053056.2:c.667T>G | NP_444284.1:p.Phe223Val | |
| XM_006718653.2:c.691T>G | XP_006718716.1:p.Phe231Val | |
| NM_053056.3:c.667T>G MANE Select | NP_444284.1:p.Phe223Val |