Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88726546C>T , CM000678.2:g.88726546C>T | GRCh38 |
| NC_000016.9:g.88792954C>T , CM000678.1:g.88792954C>T | GRCh37 |
| NC_000016.8:g.87320455C>T | NCBI36 |
| NG_042229.1:g.63675G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142864.4:c.3796+1G>A MANE Select | NP_001136336.2:n.3796+1G>A |
| ENST00000301015.14:c.3796+1G>A MANE Select | ENSP00000301015.9:n.3796+1G>A |
| NM_001142864.2:c.3796+1G>A | NP_001136336.2:n.3796+1G>A |
| NM_001142864.3:c.3796+1G>A | NP_001136336.2:n.3796+1G>A |
| ENST00000301015.13:c.3796+1G>A | ENSP00000301015.9:n.3796+1G>A |