Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.66635208C>T , CM000670.2:g.66635208C>T | GRCh38 |
| NC_000008.10:g.67547443C>T , CM000670.1:g.67547443C>T | GRCh37 |
| NC_000008.9:g.67709997C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025054.5:c.2962G>A MANE Select | NP_079330.2:p.Ala988Thr |
| ENST00000310421.5:c.2962G>A MANE Select | ENSP00000309031.4:p.Ala988Thr |
| NM_025054.4:c.2962G>A | NP_079330.2:p.Ala988Thr |
| ENST00000310421.4:c.2962G>A | ENSP00000309031.4:p.Ala988Thr |