Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44822443G>A , CM000663.2:g.44822443G>A | GRCh38 |
| NC_000001.10:g.45288115G>A , CM000663.1:g.45288115G>A | GRCh37 |
| NC_000001.9:g.45060702G>A | NCBI36 |
| NG_013369.1:g.25502C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372192.4:c.3584C>T MANE Select | ENSP00000361266.3:p.Ser1195Phe | |
| ENST00000372192.3:c.3584C>T | ENSP00000361266.3:p.Ser1195Phe | |
| ENST00000438067.5:c.186+159C>T | ||
| ENST00000447098.6:c.3425+159C>T | ENSP00000389703.2:n.3425+159C>T | |
| NM_001166292.1:c.3425+159C>T | NP_001159764.1:n.3425+159C>T | |
| NM_003738.4:c.3584C>T | NP_003729.3:p.Ser1195Phe | |
| NM_003738.5:c.3584C>T MANE Select | NP_003729.3:p.Ser1195Phe | |
| NM_001166292.2:c.3425+159C>T | NP_001159764.1:n.3425+159C>T |