Linked Data
gnomAD v4:
22-45293268-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293268T>A , CM000684.2:g.45293268T>A | GRCh38 |
| NC_000022.10:g.45689149T>A , CM000684.1:g.45689149T>A | GRCh37 |
| NC_000022.9:g.44067813T>A | NCBI36 |
| NG_016203.1:g.13282T>A | |
| NG_016203.2:g.13282T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.659T>A MANE Select | ENSP00000216211.4:p.Phe220Tyr | |
| ENST00000216211.8:c.659T>A | ENSP00000216211.4:p.Phe220Tyr | |
| ENST00000396082.2:c.296T>A | ENSP00000379391.2:p.Phe99Tyr | |
| NM_001167574.1:c.296T>A | NP_001161046.1:p.Phe99Tyr | |
| NM_006953.3:c.659T>A | NP_008884.1:p.Phe220Tyr | |
| XM_011530364.1:c.665T>A | XP_011528666.1:p.Phe222Tyr | |
| XM_011530365.1:c.302T>A | XP_011528667.1:p.Phe101Tyr | |
| NM_006953.4:c.659T>A MANE Select | NP_008884.1:p.Phe220Tyr | |
| NM_001167574.2:c.296T>A | NP_001161046.1:p.Phe99Tyr |