Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.31338320C>T , CM000669.2:g.31338320C>T | GRCh38 |
| NC_000007.13:g.31377934C>T , CM000669.1:g.31377934C>T | GRCh37 |
| NC_000007.12:g.31344459C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297142.4:c.949G>A MANE Select | ENSP00000297142.3:p.Asp317Asn | |
| ENST00000297142.3:c.949G>A | ENSP00000297142.3:p.Asp317Asn | |
| ENST00000611245.1:c.948G>A | ENSP00000479428.1:p.Thr316= | |
| NM_022728.3:c.949G>A | NP_073565.2:p.Asp317Asn | |
| NM_022728.4:c.949G>A MANE Select | NP_073565.2:p.Asp317Asn |