Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966523A= , CM000685.2:g.154966523A= | GRCh38 |
| NC_000023.10:g.154194798A= , CM000685.1:g.154194798A= | GRCh37 |
| NC_000023.9:g.153847992A= | NCBI36 |
| NG_011403.1:g.61201T= | |
| NG_011403.2:g.61201T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.1174T= MANE Select | NP_000123.1:p.Ser392= |
| ENST00000360256.9:c.1174T= MANE Select | ENSP00000353393.4:p.Ser392= |
| NM_000132.3:c.1174T= | NP_000123.1:p.Ser392= |
| ENST00000360256.8:c.1174T= | ENSP00000353393.4:p.Ser392= |
| ENST00000647125.1:c.*1050T= | ENSP00000496062.1:n.*1050T= |
| XM_011531126.1:c.1069T= | XP_011529428.1:p.Ser357= |