Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144474951G>A , CM000670.2:g.144474951G>A | GRCh38 |
| NC_000008.10:g.145700334G>A , CM000670.1:g.145700334G>A | GRCh37 |
| NC_000008.9:g.145671142G>A | NCBI36 |
| NG_030003.1:g.6385C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003923.3:c.385C>T MANE Select | NP_003914.1:p.Arg129Trp |
| ENST00000377317.5:c.385C>T MANE Select | ENSP00000366534.4:p.Arg129Trp |
| NM_003923.2:c.385C>T | NP_003914.1:p.Arg129Trp |
| ENST00000377317.4:c.385C>T | ENSP00000366534.4:p.Arg129Trp |
| ENST00000525197.1:n.414C>T |