Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5563171A>C , CM000671.2:g.5563171A>C | GRCh38 |
| NC_000009.11:g.5563171A>C , CM000671.1:g.5563171A>C | GRCh37 |
| NC_000009.10:g.5553171A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025239.4:c.776A>C MANE Select | NP_079515.2:p.Lys259Thr |
| ENST00000397747.5:c.776A>C MANE Select | ENSP00000380855.3:p.Lys259Thr |
| NM_025239.3:c.776A>C | NP_079515.2:p.Lys259Thr |
| ENST00000397747.4:c.776A>C | ENSP00000380855.3:p.Lys259Thr |
| XM_005251600.2:c.776A>C | XP_005251657.1:p.Lys259Thr |
| XM_005251600.3:c.776A>C | XP_005251657.1:p.Lys259Thr |