Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144475212T>C , CM000670.2:g.144475212T>C | GRCh38 |
| NC_000008.10:g.145700595T>C , CM000670.1:g.145700595T>C | GRCh37 |
| NC_000008.9:g.145671403T>C | NCBI36 |
| NG_030003.1:g.6124A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003923.3:c.224A>G MANE Select | NP_003914.1:p.Glu75Gly |
| ENST00000377317.5:c.224A>G MANE Select | ENSP00000366534.4:p.Glu75Gly |
| NM_003923.2:c.224A>G | NP_003914.1:p.Glu75Gly |
| ENST00000377317.4:c.224A>G | ENSP00000366534.4:p.Glu75Gly |
| ENST00000525197.1:n.253A>G |