Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121847215C>T , CM000674.2:g.121847215C>T | GRCh38 |
| NC_000012.11:g.122285121C>T , CM000674.1:g.122285121C>T | GRCh37 |
| NC_000012.10:g.120769504C>T | NCBI36 |
| NG_016461.1:g.46397G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.597-1G>A MANE Select | NP_002141.2:n.597-1G>A |
| ENST00000289004.8:c.597-1G>A MANE Select | ENSP00000289004.4:n.597-1G>A |
| NM_001171993.1:c.480-1G>A | NP_001165464.1:n.480-1G>A |
| NM_001171993.2:c.480-1G>A | NP_001165464.1:n.480-1G>A |
| NM_002150.2:c.597-1G>A | NP_002141.1:n.597-1G>A |
| ENST00000543163.5:c.480-1G>A | ENSP00000441677.1:n.480-1G>A |