Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168291339C>T , CM000663.2:g.168291339C>T | GRCh38 |
| NC_000001.10:g.168260577C>T , CM000663.1:g.168260577C>T | GRCh37 |
| NC_000001.9:g.166527201C>T | NCBI36 |
| NG_008244.1:g.15300C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005149.3:c.383C>T MANE Select | NP_005140.1:p.Ser128Phe |
| ENST00000367821.8:c.383C>T MANE Select | ENSP00000356795.3:p.Ser128Phe |
| NM_005149.2:c.383C>T | NP_005140.1:p.Ser128Phe |
| ENST00000367821.7:c.383C>T | ENSP00000356795.3:p.Ser128Phe |
| ENST00000431969.5:c.180C>T |