Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31861443T= , CM000668.2:g.31861443T= | GRCh38 |
| NC_000006.11:g.31829220T= , CM000668.1:g.31829220T= | GRCh37 |
| NC_000006.10:g.31937199T= | NCBI36 |
| NG_008201.1:g.6490A= | |
| NG_023058.1:g.22604A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.360A= MANE Select | ENSP00000364782.4:p.Thr120= | |
| ENST00000677054.1:n.1037A= | ||
| ENST00000677512.1:n.468A= | ||
| ENST00000678869.1:n.468A= | ||
| ENST00000375631.4:c.360A= | ENSP00000364782.4:p.Thr120= | |
| ENST00000480384.1:n.389A= | ||
| ENST00000491768.5:c.360A= | ENSP00000433127.1:p.Thr120= | |
| ENST00000495807.1:n.928A= | ||
| NM_000434.3:c.360A= | NP_000425.1:p.Thr120= | |
| NM_000434.4:c.360A= MANE Select | NP_000425.1:p.Thr120= |