Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51682152T>C , CM000677.2:g.51682152T>C | GRCh38 |
| NC_000015.9:g.51974349T>C , CM000677.1:g.51974349T>C | GRCh37 |
| NC_000015.8:g.49761641T>C | NCBI36 |
| NG_013214.1:g.5800T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220478.8:c.82+315T>C MANE Select | ENSP00000220478.3:n.82+315T>C | |
| ENST00000220478.7:c.82+315T>C | ENSP00000220478.3:n.82+315T>C | |
| ENST00000542355.6:c.-562+315T>C | ENSP00000445205.2:n.-562+315T>C | |
| ENST00000558709.1:c.-419+315T>C | ENSP00000452745.1:n.-419+315T>C | |
| NM_001165257.1:c.-562+315T>C | NP_001158729.1:n.-562+315T>C | |
| NM_013243.3:c.82+315T>C | NP_037375.2:n.82+315T>C | |
| NM_013243.4:c.82+315T>C MANE Select | NP_037375.2:n.82+315T>C | |
| NM_001165257.2:c.-562+315T>C | NP_001158729.1:n.-562+315T>C |