Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58491742G>A , CM000670.2:g.58491742G>A | GRCh38 |
| NC_000008.10:g.59404301G>A , CM000670.1:g.59404301G>A | GRCh37 |
| NC_000008.9:g.59566855G>A | NCBI36 |
| NG_007969.1:g.13421C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301645.4:c.1248C>T MANE Select | ENSP00000301645.3:p.Asn416= | |
| ENST00000301645.3:c.1248C>T | ENSP00000301645.3:p.Asn416= | |
| NM_000780.3:c.1248C>T | NP_000771.2:p.Asn416= | |
| XM_011517476.1:c.1248C>T | XP_011515778.1:p.Asn416= | |
| NM_000780.4:c.1248C>T MANE Select | NP_000771.2:p.Asn416= |