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