Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128155C>A , CM000672.2:g.43128155C>A | GRCh38 |
| NC_000010.10:g.43623603C>A , CM000672.1:g.43623603C>A | GRCh37 |
| NC_000010.9:g.42943609C>A | NCBI36 |
| NG_007489.1:g.56087C>A , LRG_518:g.56087C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020975.6:c.3231C>A MANE Select | NP_066124.1:p.Leu1077= |
| ENST00000355710.8:c.3231C>A MANE Select | ENSP00000347942.3:p.Leu1077= |
| NM_020975.4:c.3231C>A , LRG_518t1:c.3231C>A | NP_066124.1:p.Leu1077= |
| NM_020975.5:c.3231C>A | NP_066124.1:p.Leu1077= |
| ENST00000355710.7:c.3231C>A | ENSP00000347942.3:p.Leu1077= |
| ENST00000615310.4:c.*580C>A | ENSP00000480088.1:n.*580C>A |
| ENST00000615310.5:c.*1401C>A | ENSP00000480088.2:n.*1401C>A |
| ENST00000683007.1:n.4194C>A | |
| XM_011540027.1:c.3231C>A | XP_011538329.1:p.Leu1077= |