Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71575949T>A , CM000678.2:g.71575949T>A | GRCh38 |
| NC_000016.9:g.71609852T>A , CM000678.1:g.71609852T>A | GRCh37 |
| NC_000016.8:g.70167353T>A | NCBI36 |
| NG_008235.1:g.6147A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000353.3:c.313A>T MANE Select | NP_000344.1:p.Lys105Ter |
| ENST00000355962.5:c.313A>T MANE Select | ENSP00000348234.4:p.Lys105Ter |
| NM_000353.2:c.313A>T | NP_000344.1:p.Lys105Ter |
| ENST00000355962.4:c.313A>T | ENSP00000348234.4:p.Lys105Ter |
| ENST00000566010.1:n.563A>T | |
| ENST00000566094.5:n.409A>T |