Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947763T= , CM000682.2:g.45947763T= | GRCh38 |
| NC_000020.10:g.44576402T= , CM000682.1:g.44576402T= | GRCh37 |
| NC_000020.9:g.44009809T= | NCBI36 |
| NG_029772.1:g.29432A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372409.8:c.*8T= MANE Select | ENSP00000361486.3:n.*8T= | |
| ENST00000372409.7:c.*8T= | ENSP00000361486.3:n.*8T= | |
| ENST00000479348.2:c.1064T= | ||
| NM_022104.3:c.*8T= | NP_071387.1:n.*8T= | |
| XM_011528980.1:c.*8T= | XP_011527282.1:n.*8T= | |
| XM_011528981.1:c.*8T= | XP_011527283.1:n.*8T= | |
| XM_011528982.1:c.*8T= | XP_011527284.1:n.*8T= | |
| XM_011528980.3:c.*8T= | XP_011527282.1:n.*8T= | |
| XM_011528981.3:c.*8T= | XP_011527283.1:n.*8T= | |
| XM_017028013.2:c.*8T= | XP_016883502.1:n.*8T= | |
| XM_017028014.2:c.*8T= | XP_016883503.1:n.*8T= | |
| NM_022104.4:c.*8T= MANE Select | NP_071387.1:n.*8T= |