Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43130238T= , CM000672.2:g.43130238T= | GRCh38 |
| NC_000010.10:g.43625686T= , CM000672.1:g.43625686T= | GRCh37 |
| NC_000010.9:g.42945692T= | NCBI36 |
| NG_007489.1:g.58170T= , LRG_518:g.58170T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020975.6:c.*1969T= MANE Select | NP_066124.1:n.*1969T= |
| ENST00000355710.8:c.*1969T= MANE Select | ENSP00000347942.3:n.*1969T= |
| NM_020975.4:c.*1969T= , LRG_518t1:c.*1969T= | NP_066124.1:n.*1969T= |
| NM_020975.5:c.*1969T= | NP_066124.1:n.*1969T= |
| ENST00000355710.7:c.*1969T= | ENSP00000347942.3:n.*1969T= |
| ENST00000615310.4:c.*2663T= | ENSP00000480088.1:n.*2663T= |
| ENST00000615310.5:c.*3484T= | ENSP00000480088.2:n.*3484T= |
| ENST00000683007.1:n.6277T= | |
| XM_011540027.1:c.*737T= | XP_011538329.1:n.*737T= |