Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48345094T>A , CM000675.2:g.48345094T>A | GRCh38 |
| NC_000013.10:g.48919230T>A , CM000675.1:g.48919230T>A | GRCh37 |
| NC_000013.9:g.47817231T>A | NCBI36 |
| NG_009009.1:g.46348T>A , LRG_517:g.46348T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.395T>A MANE Select | NP_000312.2:p.Phe132Tyr |
| ENST00000267163.6:c.395T>A MANE Select | ENSP00000267163.4:p.Phe132Tyr |
| NM_000321.2:c.395T>A , LRG_517t1:c.395T>A | NP_000312.2:p.Phe132Tyr |
| ENST00000267163.4:c.395T>A | ENSP00000267163.4:p.Phe132Tyr |
| ENST00000467505.5:c.138-14923T>A | ENSP00000434702.1:n.138-14923T>A |
| ENST00000525036.1:n.557T>A | |
| ENST00000650461.1:c.395T>A | ENSP00000497193.1:p.Phe132Tyr |
| XM_011535171.1:c.134T>A | XP_011533473.1:p.Phe45Tyr |
| XM_011535171.2:c.134T>A | XP_011533473.1:p.Phe45Tyr |