Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7117050G= , CM000681.2:g.7117050G= | GRCh38 |
| NC_000019.9:g.7117061G= , CM000681.1:g.7117061G= | GRCh37 |
| NC_000019.8:g.7068061G= | NCBI36 |
| NG_008852.2:g.181951C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.*6C= MANE Select | ENSP00000303830.4:n.*6C= | |
| ENST00000302850.9:c.*6C= | ENSP00000303830.4:n.*6C= | |
| ENST00000341500.9:c.*6C= | ENSP00000342838.4:n.*6C= | |
| NM_000208.2:c.*6C= | NP_000199.2:n.*6C= | |
| NM_000208.3:c.*6C= | NP_000199.2:n.*6C= | |
| NM_001079817.1:c.*6C= | NP_001073285.1:n.*6C= | |
| NM_001079817.2:c.*6C= | NP_001073285.1:n.*6C= | |
| XM_011527988.1:c.*6C= | XP_011526290.1:n.*6C= | |
| XM_011527989.1:c.*6C= | XP_011526291.1:n.*6C= | |
| XM_011527988.2:c.*6C= | XP_011526290.2:n.*6C= | |
| XM_011527989.3:c.*6C= | XP_011526291.2:n.*6C= | |
| NM_000208.4:c.*6C= MANE Select | NP_000199.2:n.*6C= | |
| NM_001079817.3:c.*6C= | NP_001073285.1:n.*6C= |