Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993035A= , CM000685.2:g.154993035A= | GRCh38 |
| NC_000023.10:g.154221310A= , CM000685.1:g.154221310A= | GRCh37 |
| NC_000023.9:g.153874504A= | NCBI36 |
| NG_011403.1:g.34689T= | |
| NG_011403.2:g.34689T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.502T= MANE Select | ENSP00000353393.4:p.Ser168= | |
| ENST00000647125.1:c.*288T= | ENSP00000496062.1:n.*288T= | |
| ENST00000360256.8:c.502T= | ENSP00000353393.4:p.Ser168= | |
| ENST00000423959.5:c.397T= | ENSP00000409446.1:p.Ser133= | |
| ENST00000453950.1:c.484T= | ENSP00000389153.1:p.Ser162= | |
| NM_000132.3:c.502T= | NP_000123.1:p.Ser168= | |
| XM_011531126.1:c.397T= | XP_011529428.1:p.Ser133= | |
| NM_000132.4:c.502T= MANE Select | NP_000123.1:p.Ser168= |