Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31861429G>A , CM000668.2:g.31861429G>A | GRCh38 |
| NC_000006.11:g.31829206G>A , CM000668.1:g.31829206G>A | GRCh37 |
| NC_000006.10:g.31937185G>A | NCBI36 |
| NG_008201.1:g.6504C>T | |
| NG_023058.1:g.22618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.374C>T MANE Select | ENSP00000364782.4:p.Ala125Val | |
| ENST00000677054.1:n.1051C>T | ||
| ENST00000677512.1:n.482C>T | ||
| ENST00000678869.1:n.482C>T | ||
| ENST00000375631.4:c.374C>T | ENSP00000364782.4:p.Ala125Val | |
| ENST00000480384.1:n.403C>T | ||
| ENST00000491768.5:c.374C>T | ENSP00000433127.1:p.Ala125Val | |
| ENST00000495807.1:n.942C>T | ||
| NM_000434.3:c.374C>T | NP_000425.1:p.Ala125Val | |
| NM_000434.4:c.374C>T MANE Select | NP_000425.1:p.Ala125Val |