Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100647019G>T , CM000669.2:g.100647019G>T | GRCh38 |
| NC_000007.13:g.100244642G>T , CM000669.1:g.100244642G>T | GRCh37 |
| NC_000007.12:g.100082578G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.888C>A MANE Select | ENSP00000160382.5:p.Ala296= | |
| ENST00000160382.9:c.888C>A | ENSP00000160382.5:p.Ala296= | |
| ENST00000487125.1:n.450C>A | ||
| NM_016188.4:c.888C>A | NP_057272.1:p.Ala296= | |
| XR_927476.1:n.995C>A | ||
| NR_134539.1:n.995C>A | ||
| NM_016188.5:c.888C>A MANE Select | NP_057272.1:p.Ala296= | |
| NR_134539.2:n.982C>A |