Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.184792231A= , CM000663.2:g.184792231A= | GRCh38 |
| NC_000001.10:g.184761365A= , CM000663.1:g.184761365A= | GRCh37 |
| NC_000001.9:g.183027988A= | NCBI36 |
| NG_051588.1:g.187356T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052966.4:c.*2746T= MANE Select | NP_443198.1:n.*2746T= |
| ENST00000367511.4:c.*2746T= MANE Select | ENSP00000356481.3:n.*2746T= |
| NM_052966.3:c.*2746T= | NP_443198.1:n.*2746T= |
| ENST00000367511.3:c.*2746T= | ENSP00000356481.3:n.*2746T= |
| ENST00000417056.5:c.261-1166T= | |
| XM_011509140.1:c.*2746T= | XP_011507442.1:n.*2746T= |
| XM_011509140.3:c.*2746T= | XP_011507442.1:n.*2746T= |
| XM_011509141.1:c.*2746T= | XP_011507443.1:n.*2746T= |
| XM_011509141.3:c.*2746T= | XP_011507443.1:n.*2746T= |