Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31862112G>A , CM000668.2:g.31862112G>A | GRCh38 |
| NC_000006.11:g.31829889G>A , CM000668.1:g.31829889G>A | GRCh37 |
| NC_000006.10:g.31937868G>A | NCBI36 |
| NG_008201.1:g.5821C>T | |
| NG_023058.1:g.21935C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000434.4:c.239C>T MANE Select | NP_000425.1:p.Pro80Leu |
| ENST00000375631.5:c.239C>T MANE Select | ENSP00000364782.4:p.Pro80Leu |
| NM_000434.3:c.239C>T | NP_000425.1:p.Pro80Leu |
| ENST00000375631.4:c.239C>T | ENSP00000364782.4:p.Pro80Leu |
| ENST00000480384.1:n.268C>T | |
| ENST00000491768.5:c.239C>T | ENSP00000433127.1:p.Pro80Leu |
| ENST00000495807.1:n.259C>T | |
| ENST00000677054.1:n.368C>T | |
| ENST00000677512.1:n.347C>T | |
| ENST00000678869.1:n.347C>T |