Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71572645C>T , CM000678.2:g.71572645C>T | GRCh38 |
| NC_000016.9:g.71606548C>T , CM000678.1:g.71606548C>T | GRCh37 |
| NC_000016.8:g.70164049C>T | NCBI36 |
| NG_008235.1:g.9451G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355962.5:c.452G>A MANE Select | ENSP00000348234.4:p.Cys151Tyr | |
| ENST00000355962.4:c.452G>A | ENSP00000348234.4:p.Cys151Tyr | |
| NM_000353.2:c.452G>A | NP_000344.1:p.Cys151Tyr | |
| NM_000353.3:c.452G>A MANE Select | NP_000344.1:p.Cys151Tyr |