Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3442075T>A , CM000666.2:g.3442075T>A | GRCh38 |
| NC_000004.11:g.3443802T>A , CM000666.1:g.3443802T>A | GRCh37 |
| NC_000004.10:g.3413600T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001528.4:c.74T>A MANE Select | NP_001519.1:p.Leu25Gln |
| ENST00000382774.8:c.74T>A MANE Select | ENSP00000372224.4:p.Leu25Gln |
| NM_001297439.1:c.74T>A | NP_001284368.1:p.Leu25Gln |
| NM_001297439.2:c.74T>A | NP_001284368.1:p.Leu25Gln |
| NM_001528.3:c.74T>A | NP_001519.1:p.Leu25Gln |
| ENST00000382774.7:c.74T>A | ENSP00000372224.3:p.Leu25Gln |
| ENST00000511533.1:c.74T>A | ENSP00000421801.1:p.Leu25Gln |
| XM_011513458.1:c.74T>A | XP_011511760.1:p.Leu25Gln |
| XR_924945.1:n.101T>A |