Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965728C>A , CM000670.2:g.37965728C>A | GRCh38 |
| NC_000008.10:g.37823246C>A , CM000670.1:g.37823246C>A | GRCh37 |
| NC_000008.9:g.37942403C>A | NCBI36 |
| NG_011936.1:g.5939G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.742G>T MANE Select | NP_000016.1:p.Glu248Ter |
| ENST00000345060.5:c.742G>T MANE Select | ENSP00000343782.3:p.Glu248Ter |
| NM_000025.2:c.742G>T | NP_000016.1:p.Glu248Ter |
| ENST00000345060.4:c.742G>T | ENSP00000343782.3:p.Glu248Ter |
| ENST00000520341.1:n.17G>T | |
| ENST00000520341.2:n.870G>T | |
| ENST00000614635.1:c.742G>T | ENSP00000480325.1:p.Glu248Ter |
| ENST00000647937.1:c.226G>T | ENSP00000497740.1:p.Glu76Ter |