Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48345175T>G , CM000675.2:g.48345175T>G | GRCh38 |
| NC_000013.10:g.48919311T>G , CM000675.1:g.48919311T>G | GRCh37 |
| NC_000013.9:g.47817312T>G | NCBI36 |
| NG_009009.1:g.46429T>G , LRG_517:g.46429T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.476T>G MANE Select | NP_000312.2:p.Phe159Cys |
| ENST00000267163.6:c.476T>G MANE Select | ENSP00000267163.4:p.Phe159Cys |
| NM_000321.2:c.476T>G , LRG_517t1:c.476T>G | NP_000312.2:p.Phe159Cys |
| ENST00000267163.4:c.476T>G | ENSP00000267163.4:p.Phe159Cys |
| ENST00000467505.5:c.138-14842T>G | ENSP00000434702.1:n.138-14842T>G |
| ENST00000525036.1:n.638T>G | |
| ENST00000650461.1:c.476T>G | ENSP00000497193.1:p.Phe159Cys |
| XM_011535171.1:c.215T>G | XP_011533473.1:p.Phe72Cys |
| XM_011535171.2:c.215T>G | XP_011533473.1:p.Phe72Cys |