Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144474809G>T , CM000670.2:g.144474809G>T | GRCh38 |
| NC_000008.10:g.145700192G>T , CM000670.1:g.145700192G>T | GRCh37 |
| NC_000008.9:g.145671000G>T | NCBI36 |
| NG_030003.1:g.6527C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003923.3:c.527C>A MANE Select | NP_003914.1:p.Ser176Tyr |
| ENST00000377317.5:c.527C>A MANE Select | ENSP00000366534.4:p.Ser176Tyr |
| NM_003923.2:c.527C>A | NP_003914.1:p.Ser176Tyr |
| ENST00000377317.4:c.527C>A | ENSP00000366534.4:p.Ser176Tyr |