Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155812111C>A , CM000669.2:g.155812111C>A | GRCh38 |
| NC_000007.13:g.155604805C>A , CM000669.1:g.155604805C>A | GRCh37 |
| NC_000007.12:g.155297566C>A | NCBI36 |
| NG_007504.2:g.5163G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000193.4:c.12G>T MANE Select | NP_000184.1:p.Leu4= |
| ENST00000297261.7:c.12G>T MANE Select | ENSP00000297261.2:p.Leu4= |
| NM_000193.2:c.12G>T | NP_000184.1:p.Leu4= |
| NM_000193.3:c.12G>T | NP_000184.1:p.Leu4= |
| ENST00000297261.6:c.12G>T | ENSP00000297261.2:p.Leu4= |