Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422940T= , CM000663.2:g.119422940T= | GRCh38 |
| NC_000001.10:g.119965563T= , CM000663.1:g.119965563T= | GRCh37 |
| NC_000001.9:g.119767086T= | NCBI36 |
| NG_013349.1:g.13010T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.*320T= MANE Select | ENSP00000358424.3:n.*320T= | |
| ENST00000369416.3:c.*320T= | ENSP00000358424.3:n.*320T= | |
| ENST00000543831.5:c.*320T= | ENSP00000445122.1:n.*320T= | |
| NM_000198.3:c.*320T= | NP_000189.1:n.*320T= | |
| NM_001166120.1:c.*320T= | NP_001159592.1:n.*320T= | |
| NM_000198.4:c.*320T= MANE Select | NP_000189.1:n.*320T= | |
| NM_001166120.2:c.*320T= | NP_001159592.1:n.*320T= |