Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31862113G>T , CM000668.2:g.31862113G>T | GRCh38 |
| NC_000006.11:g.31829890G>T , CM000668.1:g.31829890G>T | GRCh37 |
| NC_000006.10:g.31937869G>T | NCBI36 |
| NG_008201.1:g.5820C>A | |
| NG_023058.1:g.21934C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000434.4:c.238C>A MANE Select | NP_000425.1:p.Pro80Thr |
| ENST00000375631.5:c.238C>A MANE Select | ENSP00000364782.4:p.Pro80Thr |
| NM_000434.3:c.238C>A | NP_000425.1:p.Pro80Thr |
| ENST00000375631.4:c.238C>A | ENSP00000364782.4:p.Pro80Thr |
| ENST00000480384.1:n.267C>A | |
| ENST00000491768.5:c.238C>A | ENSP00000433127.1:p.Pro80Thr |
| ENST00000495807.1:n.258C>A | |
| ENST00000677054.1:n.367C>A | |
| ENST00000677512.1:n.346C>A | |
| ENST00000678869.1:n.346C>A |