Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590752G>A , CM000679.2:g.61590752G>A | GRCh38 |
| NC_000017.10:g.59668113G>A , CM000679.1:g.59668113G>A | GRCh37 |
| NC_000017.9:g.57022895G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.429C>T MANE Select | ENSP00000427802.1:p.Phe143= | |
| ENST00000521764.2:c.429C>T | ENSP00000427802.1:p.Phe143= | |
| NM_199290.3:c.429C>T | NP_954984.1:p.Phe143= | |
| NM_199290.4:c.429C>T MANE Select | NP_954984.1:p.Phe143= |