Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84237044C>T , CM000678.2:g.84237044C>T | GRCh38 |
| NC_000016.9:g.84270650C>T , CM000678.1:g.84270650C>T | GRCh37 |
| NC_000016.8:g.82828151C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308251.6:c.442G>A MANE Select | ENSP00000312129.4:p.Ala148Thr | |
| ENST00000308251.5:c.442G>A | ENSP00000312129.4:p.Ala148Thr | |
| ENST00000568181.1:c.442G>A | ENSP00000457897.1:p.Ala148Thr | |
| NM_172347.2:c.442G>A | NP_758857.1:p.Ala148Thr | |
| NM_172347.3:c.442G>A MANE Select | NP_758857.1:p.Ala148Thr |