Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33028155C= , CM000683.2:g.33028155C= | GRCh38 |
| NC_000021.8:g.34400463C= , CM000683.1:g.34400463C= | GRCh37 |
| NC_000021.7:g.33322333C= | NCBI36 |
| NG_011834.1:g.7225C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005806.4:c.*321C= MANE Select | NP_005797.1:n.*321C= |
| ENST00000382357.4:c.*321C= MANE Select | ENSP00000371794.3:n.*321C= |
| NM_005806.3:c.*321C= | NP_005797.1:n.*321C= |
| ENST00000333337.3:c.*321C= | ENSP00000331040.3:n.*321C= |
| ENST00000382357.3:c.*321C= | ENSP00000371794.3:n.*321C= |
| XM_005260908.1:c.*321C= | XP_005260965.1:n.*321C= |