Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128167T>C , CM000672.2:g.43128167T>C | GRCh38 |
| NC_000010.10:g.43623615T>C , CM000672.1:g.43623615T>C | GRCh37 |
| NC_000010.9:g.42943621T>C | NCBI36 |
| NG_007489.1:g.56099T>C , LRG_518:g.56099T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020975.6:c.3243T>C MANE Select | NP_066124.1:p.Asp1081= |
| ENST00000355710.8:c.3243T>C MANE Select | ENSP00000347942.3:p.Asp1081= |
| NM_020975.4:c.3243T>C , LRG_518t1:c.3243T>C | NP_066124.1:p.Asp1081= |
| NM_020975.5:c.3243T>C | NP_066124.1:p.Asp1081= |
| ENST00000355710.7:c.3243T>C | ENSP00000347942.3:p.Asp1081= |
| ENST00000615310.4:c.*592T>C | ENSP00000480088.1:n.*592T>C |
| ENST00000615310.5:c.*1413T>C | ENSP00000480088.2:n.*1413T>C |
| ENST00000683007.1:n.4206T>C | |
| XM_011540027.1:c.3243T>C | XP_011538329.1:p.Asp1081= |