Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19956052C>T , CM000670.2:g.19956052C>T | GRCh38 |
| NC_000008.10:g.19813563C>T , CM000670.1:g.19813563C>T | GRCh37 |
| NC_000008.9:g.19857843C>T | NCBI36 |
| NG_008855.1:g.21982C>T | |
| NG_008855.2:g.59336C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.987C>T MANE Select | NP_000228.1:p.Tyr329= |
| ENST00000650287.1:c.987C>T MANE Select | ENSP00000497642.1:p.Tyr329= |
| NM_000237.2:c.987C>T | NP_000228.1:p.Tyr329= |
| ENST00000311322.8:c.987C>T | ENSP00000309757.6:p.Tyr329= |
| ENST00000650478.1:c.48C>T | ENSP00000497560.1:p.Tyr16= |