Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88745842T>C , CM000678.2:g.88745842T>C | GRCh38 |
| NC_000016.9:g.88812250T>C , CM000678.1:g.88812250T>C | GRCh37 |
| NC_000016.8:g.87339751T>C | NCBI36 |
| NG_042229.1:g.44379A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142864.4:c.161-3420A>G MANE Select | NP_001136336.2:n.161-3420A>G |
| ENST00000301015.14:c.161-3420A>G MANE Select | ENSP00000301015.9:n.161-3420A>G |
| NM_001142864.2:c.161-3420A>G | NP_001136336.2:n.161-3420A>G |
| NM_001142864.3:c.161-3420A>G | NP_001136336.2:n.161-3420A>G |
| ENST00000301015.13:c.161-3420A>G | ENSP00000301015.9:n.161-3420A>G |