Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860117G= , CM000668.2:g.31860117G= | GRCh38 |
| NC_000006.11:g.31827894G= , CM000668.1:g.31827894G= | GRCh37 |
| NC_000006.10:g.31935873G= | NCBI36 |
| NG_008201.1:g.7816C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.946C= MANE Select | ENSP00000364782.4:p.Pro316= | |
| ENST00000677054.1:n.2189C= | ||
| ENST00000677512.1:n.1228C= | ||
| ENST00000678869.1:n.1534C= | ||
| ENST00000375631.4:c.946C= | ENSP00000364782.4:p.Pro316= | |
| ENST00000480384.1:n.1149C= | ||
| ENST00000491768.5:c.*56C= | ENSP00000433127.1:n.*56C= | |
| ENST00000495807.1:n.2254C= | ||
| NM_000434.3:c.946C= | NP_000425.1:p.Pro316= | |
| NM_000434.4:c.946C= MANE Select | NP_000425.1:p.Pro316= |