Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144474963T>A , CM000670.2:g.144474963T>A | GRCh38 |
| NC_000008.10:g.145700346T>A , CM000670.1:g.145700346T>A | GRCh37 |
| NC_000008.9:g.145671154T>A | NCBI36 |
| NG_030003.1:g.6373A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377317.5:c.373A>T MANE Select | ENSP00000366534.4:p.Thr125Ser | |
| ENST00000377317.4:c.373A>T | ENSP00000366534.4:p.Thr125Ser | |
| ENST00000525197.1:n.402A>T | ||
| NM_003923.2:c.373A>T | NP_003914.1:p.Thr125Ser | |
| NM_003923.3:c.373A>T MANE Select | NP_003914.1:p.Thr125Ser |