Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154954009A>G , CM000685.2:g.154954009A>G | GRCh38 |
| NC_000023.10:g.154182284A>G , CM000685.1:g.154182284A>G | GRCh37 |
| NC_000023.9:g.153835478A>G | NCBI36 |
| NG_011403.1:g.73715T>C | |
| NG_011403.2:g.73715T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1786T>C MANE Select | ENSP00000353393.4:p.Ser596Pro | |
| ENST00000647125.1:c.*1662T>C | ENSP00000496062.1:n.*1662T>C | |
| ENST00000360256.8:c.1786T>C | ENSP00000353393.4:p.Ser596Pro | |
| NM_000132.3:c.1786T>C | NP_000123.1:p.Ser596Pro | |
| XM_011531126.1:c.1681T>C | XP_011529428.1:p.Ser561Pro | |
| NM_000132.4:c.1786T>C MANE Select | NP_000123.1:p.Ser596Pro |