Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43130081C>A , CM000672.2:g.43130081C>A | GRCh38 |
| NC_000010.10:g.43625529C>A , CM000672.1:g.43625529C>A | GRCh37 |
| NC_000010.9:g.42945535C>A | NCBI36 |
| NG_007489.1:g.58013C>A , LRG_518:g.58013C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020975.6:c.*1812C>A MANE Select | NP_066124.1:n.*1812C>A |
| ENST00000355710.8:c.*1812C>A MANE Select | ENSP00000347942.3:n.*1812C>A |
| NM_020975.4:c.*1812C>A , LRG_518t1:c.*1812C>A | NP_066124.1:n.*1812C>A |
| NM_020975.5:c.*1812C>A | NP_066124.1:n.*1812C>A |
| ENST00000355710.7:c.*1812C>A | ENSP00000347942.3:n.*1812C>A |
| ENST00000615310.4:c.*2506C>A | ENSP00000480088.1:n.*2506C>A |
| ENST00000615310.5:c.*3327C>A | ENSP00000480088.2:n.*3327C>A |
| ENST00000683007.1:n.6120C>A | |
| XM_011540027.1:c.*580C>A | XP_011538329.1:n.*580C>A |