Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75260513G= , CM000673.2:g.75260513G= | GRCh38 |
| NC_000011.9:g.74971557G= , CM000673.1:g.74971557G= | GRCh37 |
| NC_000011.8:g.74649205G= | NCBI36 |
| NG_028118.1:g.96319C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420843.7:c.*5650C= MANE Select | ENSP00000409581.2:n.*5650C= | |
| NM_004041.4:c.*5650C= | NP_004032.2:n.*5650C= | |
| NM_020251.3:c.*5650C= | NP_064647.1:n.*5650C= | |
| XM_011545034.2:c.*5650C= | XP_011543336.1:n.*5650C= | |
| XM_011545035.2:c.*5650C= | XP_011543337.1:n.*5650C= | |
| XM_017017750.1:c.*5650C= | XP_016873239.1:n.*5650C= | |
| XM_017017751.1:c.*5650C= | XP_016873240.1:n.*5650C= | |
| XM_017017752.2:c.*5650C= | XP_016873241.1:n.*5650C= | |
| XM_017017753.1:c.*5650C= | XP_016873242.1:n.*5650C= | |
| XM_017017754.2:c.*5650C= | XP_016873243.1:n.*5650C= | |
| NM_004041.5:c.*5650C= MANE Select | NP_004032.2:n.*5650C= | |
| NM_020251.4:c.*5650C= | NP_064647.1:n.*5650C= |