Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144474480T>G , CM000670.2:g.144474480T>G | GRCh38 |
| NC_000008.10:g.145699863T>G , CM000670.1:g.145699863T>G | GRCh37 |
| NC_000008.9:g.145670671T>G | NCBI36 |
| NG_030003.1:g.6856A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003923.3:c.856A>C MANE Select | NP_003914.1:p.Thr286Pro |
| ENST00000377317.5:c.856A>C MANE Select | ENSP00000366534.4:p.Thr286Pro |
| NM_003923.2:c.856A>C | NP_003914.1:p.Thr286Pro |
| ENST00000377317.4:c.856A>C | ENSP00000366534.4:p.Thr286Pro |