Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154931338T>G , CM000685.2:g.154931338T>G | GRCh38 |
| NC_000023.10:g.154159613T>G , CM000685.1:g.154159613T>G | GRCh37 |
| NC_000023.9:g.153812807T>G | NCBI36 |
| NG_011403.1:g.96386A>C | |
| NG_011403.2:g.96386A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.2452A>C MANE Select | ENSP00000353393.4:p.Thr818Pro | |
| ENST00000647125.1:c.*2118A>C | ENSP00000496062.1:n.*2118A>C | |
| ENST00000360256.8:c.2452A>C | ENSP00000353393.4:p.Thr818Pro | |
| NM_000132.3:c.2452A>C | NP_000123.1:p.Thr818Pro | |
| XM_011531126.1:c.2347A>C | XP_011529428.1:p.Thr783Pro | |
| NM_000132.4:c.2452A>C MANE Select | NP_000123.1:p.Thr818Pro |