Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32187804A>C , CM000668.2:g.32187804A>C | GRCh38 |
| NC_000006.11:g.32155581A>C , CM000668.1:g.32155581A>C | GRCh37 |
| NC_000006.10:g.32263559A>C | NCBI36 |
| NG_029868.1:g.1519T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002586.5:c.735-22T>G MANE Select | NP_002577.2:n.735-22T>G |
| ENST00000375050.6:c.735-22T>G MANE Select | ENSP00000364190.3:n.735-22T>G |
| NM_002586.4:c.735-22T>G | NP_002577.2:n.735-22T>G |
| ENST00000375050.5:c.735-22T>G | ENSP00000364190.3:n.735-22T>G |
| ENST00000478678.5:n.762-22T>G | |
| ENST00000496171.1:n.752-22T>G | |
| XM_011514647.1:c.390-22T>G | XP_011512949.1:n.390-22T>G |