Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31861402G>A , CM000668.2:g.31861402G>A | GRCh38 |
| NC_000006.11:g.31829179G>A , CM000668.1:g.31829179G>A | GRCh37 |
| NC_000006.10:g.31937158G>A | NCBI36 |
| NG_008201.1:g.6531C>T | |
| NG_023058.1:g.22645C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.401C>T MANE Select | ENSP00000364782.4:p.Pro134Leu | |
| ENST00000677054.1:n.1078C>T | ||
| ENST00000677512.1:n.509C>T | ||
| ENST00000678869.1:n.509C>T | ||
| ENST00000375631.4:c.401C>T | ENSP00000364782.4:p.Pro134Leu | |
| ENST00000480384.1:n.430C>T | ||
| ENST00000491768.5:c.401C>T | ENSP00000433127.1:p.Pro134Leu | |
| ENST00000495807.1:n.969C>T | ||
| NM_000434.3:c.401C>T | NP_000425.1:p.Pro134Leu | |
| NM_000434.4:c.401C>T MANE Select | NP_000425.1:p.Pro134Leu |