Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57167596G>T , CM000674.2:g.57167596G>T | GRCh38 |
| NC_000012.11:g.57561379G>T , CM000674.1:g.57561379G>T | GRCh37 |
| NC_000012.10:g.55847646G>T | NCBI36 |
| NG_016444.1:g.44098G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002332.3:c.2995+72G>T MANE Select | NP_002323.2:n.2995+72G>T |
| ENST00000243077.8:c.2995+72G>T MANE Select | ENSP00000243077.3:n.2995+72G>T |
| NM_002332.2:c.2995+72G>T | NP_002323.2:n.2995+72G>T |
| ENST00000243077.7:c.2995+72G>T | ENSP00000243077.3:n.2995+72G>T |
| ENST00000553446.1:n.80+72G>T | |
| XM_017019303.1:c.2995+72G>T | XP_016874792.1:n.2995+72G>T |