Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965796G>T , CM000670.2:g.37965796G>T | GRCh38 |
| NC_000008.10:g.37823314G>T , CM000670.1:g.37823314G>T | GRCh37 |
| NC_000008.9:g.37942471G>T | NCBI36 |
| NG_011936.1:g.5871C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.674C>A MANE Select | ENSP00000343782.3:p.Ala225Glu | |
| ENST00000520341.2:n.802C>A | ||
| ENST00000647937.1:c.158C>A | ENSP00000497740.1:p.Ala53Glu | |
| ENST00000345060.4:c.674C>A | ENSP00000343782.3:p.Ala225Glu | |
| ENST00000614635.1:c.674C>A | ENSP00000480325.1:p.Ala225Glu | |
| NM_000025.2:c.674C>A | NP_000016.1:p.Ala225Glu | |
| NM_000025.3:c.674C>A MANE Select | NP_000016.1:p.Ala225Glu |