Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102839190G>T , CM000673.2:g.102839190G>T | GRCh38 |
| NC_000011.9:g.102709921G>T , CM000673.1:g.102709921G>T | GRCh37 |
| NC_000011.8:g.102215131G>T | NCBI36 |
| NG_012100.1:g.9422C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.989C>A MANE Select | ENSP00000299855.5:p.Ser330Tyr | |
| ENST00000299855.9:c.989C>A | ENSP00000299855.5:p.Ser330Tyr | |
| NM_002422.3:c.989C>A | NP_002413.1:p.Ser330Tyr | |
| NM_002422.4:c.989C>A | NP_002413.1:p.Ser330Tyr | |
| NM_002422.5:c.989C>A MANE Select | NP_002413.1:p.Ser330Tyr |