Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965725C>T , CM000670.2:g.37965725C>T | GRCh38 |
| NC_000008.10:g.37823243C>T , CM000670.1:g.37823243C>T | GRCh37 |
| NC_000008.9:g.37942400C>T | NCBI36 |
| NG_011936.1:g.5942G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.745G>A MANE Select | NP_000016.1:p.Glu249Lys |
| ENST00000345060.5:c.745G>A MANE Select | ENSP00000343782.3:p.Glu249Lys |
| NM_000025.2:c.745G>A | NP_000016.1:p.Glu249Lys |
| ENST00000345060.4:c.745G>A | ENSP00000343782.3:p.Glu249Lys |
| ENST00000520341.1:n.20G>A | |
| ENST00000520341.2:n.873G>A | |
| ENST00000614635.1:c.745G>A | ENSP00000480325.1:p.Glu249Lys |
| ENST00000647937.1:c.229G>A | ENSP00000497740.1:p.Glu77Lys |