Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223895526T>C , CM000664.2:g.223895526T>C | GRCh38 |
| NC_000002.11:g.224760243T>C , CM000664.1:g.224760243T>C | GRCh37 |
| NC_000002.10:g.224468487T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020830.5:c.703A>G MANE Select | NP_065881.1:p.Thr235Ala |
| ENST00000233055.9:c.703A>G MANE Select | ENSP00000233055.4:p.Thr235Ala |
| NM_020830.4:c.703A>G | NP_065881.1:p.Thr235Ala |
| ENST00000233055.8:c.703A>G | ENSP00000233055.4:p.Thr235Ala |
| ENST00000429915.1:c.574A>G | ENSP00000395416.1:p.Thr192Ala |
| ENST00000493001.1:n.424A>G | |
| ENST00000650969.1:c.*156A>G | ENSP00000498456.1:n.*156A>G |