Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74789225C= , CM000669.2:g.74789225C= | GRCh38 |
| NC_000007.13:g.74203569C= , CM000669.1:g.74203569C= | GRCh37 |
| NC_000007.12:g.73841505C= | NCBI36 |
| NG_009078.2:g.20262C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.11:c.*65C= MANE Select | ENSP00000289473.4:n.*65C= | |
| ENST00000289473.10:c.*65C= | ENSP00000289473.4:n.*65C= | |
| ENST00000289473.8:c.*65C= | ENSP00000289473.4:n.*65C= | |
| ENST00000398421.6:n.2265C= | ||
| ENST00000455062.2:n.1347C= | ||
| NM_000265.5:c.*65C= | NP_000256.4:n.*65C= | |
| XM_005250543.3:c.*159C= | XP_005250600.2:n.*159C= | |
| XM_011516498.1:c.*112C= | XP_011514800.1:n.*112C= | |
| XM_011516501.1:c.*65C= | XP_011514803.1:n.*65C= | |
| NM_000265.6:c.*65C= | NP_000256.4:n.*65C= | |
| NM_000265.7:c.*65C= MANE Select | NP_000256.4:n.*65C= |