Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155458738C>T , CM000669.2:g.155458738C>T | GRCh38 |
| NC_000007.13:g.155251433C>T , CM000669.1:g.155251433C>T | GRCh37 |
| NC_000007.12:g.154944194C>T | NCBI36 |
| NG_007124.1:g.7019C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001427.4:c.361C>T MANE Select | NP_001418.2:p.Leu121Phe |
| ENST00000297375.4:c.361C>T MANE Select | ENSP00000297375.4:p.Leu121Phe |
| NM_001427.3:c.361C>T | NP_001418.2:p.Leu121Phe |