Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46698060A>T , CM000678.2:g.46698060A>T | GRCh38 |
| NC_000016.9:g.46731972A>T , CM000678.1:g.46731972A>T | GRCh37 |
| NC_000016.8:g.45289473A>T | NCBI36 |
| NG_028241.1:g.13415A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219097.7:c.*475A>T MANE Select | ENSP00000219097.2:n.*475A>T | |
| ENST00000219097.6:c.*475A>T | ENSP00000219097.2:n.*475A>T | |
| ENST00000566860.1:c.*475A>T | ENSP00000456981.1:n.*475A>T | |
| ENST00000567000.2:n.1238A>T | ||
| NM_014321.3:c.*475A>T | NP_055136.1:n.*475A>T | |
| NR_037620.1:n.1353A>T | ||
| NM_014321.4:c.*475A>T MANE Select | NP_055136.1:n.*475A>T | |
| NR_037620.2:n.1340A>T |