Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21892665A>T , CM000669.2:g.21892665A>T | GRCh38 |
| NC_000007.13:g.21932283A>T , CM000669.1:g.21932283A>T | GRCh37 |
| NC_000007.12:g.21898808A>T | NCBI36 |
| NG_012886.2:g.354451A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.12748A>T MANE Select | NP_001264044.1:p.Lys4250Ter |
| ENST00000409508.8:c.12748A>T MANE Select | ENSP00000475939.1:p.Lys4250Ter |
| NM_001277115.1:c.12748A>T | NP_001264044.1:p.Lys4250Ter |
| ENST00000328843.10:c.12769A>T | ENSP00000330671.7:p.Lys4257Ter |
| ENST00000409508.7:c.12748A>T | ENSP00000475939.1:p.Lys4250Ter |
| ENST00000479878.1:n.41A>T | |
| ENST00000620169.4:c.12769A>T | ENSP00000481693.1:p.Lys4257Ter |