Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859747G= , CM000668.2:g.31859747G= | GRCh38 |
| NC_000006.11:g.31827524G= , CM000668.1:g.31827524G= | GRCh37 |
| NC_000006.10:g.31935503G= | NCBI36 |
| NG_008201.1:g.8186C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.1220C= MANE Select | ENSP00000364782.4:p.Ala407= | |
| ENST00000677054.1:n.2559C= | ||
| ENST00000677512.1:n.1497C= | ||
| ENST00000678869.1:n.1808C= | ||
| ENST00000375631.4:c.1220C= | ENSP00000364782.4:p.Ala407= | |
| ENST00000480384.1:n.1519C= | ||
| ENST00000491768.5:c.*330C= | ENSP00000433127.1:n.*330C= | |
| ENST00000495807.1:n.2528C= | ||
| NM_000434.3:c.1220C= | NP_000425.1:p.Ala407= | |
| NM_000434.4:c.1220C= MANE Select | NP_000425.1:p.Ala407= |