Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21200754G>T , CM000674.2:g.21200754G>T | GRCh38 |
| NC_000012.11:g.21353688G>T , CM000674.1:g.21353688G>T | GRCh37 |
| NC_000012.10:g.21244955G>T | NCBI36 |
| NG_011745.1:g.74561G>T , LRG_1022:g.74561G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.1135+82G>T MANE Select | ENSP00000256958.2:n.1135+82G>T | |
| ENST00000256958.2:c.1135+82G>T | ENSP00000256958.2:n.1135+82G>T | |
| NM_006446.4:c.1135+82G>T , LRG_1022t1:c.1135+82G>T | NP_006437.3:n.1135+82G>T | |
| NM_006446.5:c.1135+82G>T MANE Select | NP_006437.3:n.1135+82G>T |