Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46698093T= , CM000678.2:g.46698093T= | GRCh38 |
| NC_000016.9:g.46732005T= , CM000678.1:g.46732005T= | GRCh37 |
| NC_000016.8:g.45289506T= | NCBI36 |
| NG_028241.1:g.13448T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219097.7:c.*508T= MANE Select | ENSP00000219097.2:n.*508T= | |
| ENST00000219097.6:c.*508T= | ENSP00000219097.2:n.*508T= | |
| ENST00000566860.1:c.*508T= | ENSP00000456981.1:n.*508T= | |
| ENST00000567000.2:n.1271T= | ||
| NM_014321.3:c.*508T= | NP_055136.1:n.*508T= | |
| NR_037620.1:n.1386T= | ||
| NM_014321.4:c.*508T= MANE Select | NP_055136.1:n.*508T= | |
| NR_037620.2:n.1373T= |