Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31861328C>T , CM000668.2:g.31861328C>T | GRCh38 |
| NC_000006.11:g.31829105C>T , CM000668.1:g.31829105C>T | GRCh37 |
| NC_000006.10:g.31937084C>T | NCBI36 |
| NG_008201.1:g.6605G>A | |
| NG_023058.1:g.22719G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.475G>A MANE Select | ENSP00000364782.4:p.Ala159Thr | |
| ENST00000677054.1:n.1152G>A | ||
| ENST00000677512.1:n.583G>A | ||
| ENST00000678869.1:n.583G>A | ||
| ENST00000375631.4:c.475G>A | ENSP00000364782.4:p.Ala159Thr | |
| ENST00000480384.1:n.504G>A | ||
| ENST00000491768.5:c.475G>A | ENSP00000433127.1:p.Ala159Thr | |
| ENST00000495807.1:n.1043G>A | ||
| NM_000434.3:c.475G>A | NP_000425.1:p.Ala159Thr | |
| NM_000434.4:c.475G>A MANE Select | NP_000425.1:p.Ala159Thr |