Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102840213G>A , CM000673.2:g.102840213G>A | GRCh38 |
| NC_000011.9:g.102710944G>A , CM000673.1:g.102710944G>A | GRCh37 |
| NC_000011.8:g.102216154G>A | NCBI36 |
| NG_012100.1:g.8399C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.830C>T MANE Select | ENSP00000299855.5:p.Thr277Met | |
| ENST00000299855.9:c.830C>T | ENSP00000299855.5:p.Thr277Met | |
| NM_002422.3:c.830C>T | NP_002413.1:p.Thr277Met | |
| NM_002422.4:c.830C>T | NP_002413.1:p.Thr277Met | |
| NM_002422.5:c.830C>T MANE Select | NP_002413.1:p.Thr277Met |