Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10285007A>T , CM000681.2:g.10285007A>T | GRCh38 |
| NC_000019.9:g.10395683A>T , CM000681.1:g.10395683A>T | GRCh37 |
| NC_000019.8:g.10256683A>T | NCBI36 |
| NG_007728.1:g.3034A>T | |
| NG_012083.1:g.19167A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000201.3:c.1405A>T MANE Select | NP_000192.2:p.Lys469Ter |
| ENST00000264832.8:c.1405A>T MANE Select | ENSP00000264832.2:p.Lys469Ter |
| NM_000201.2:c.1405A>T | NP_000192.2:p.Lys469Ter |
| ENST00000264832.7:c.1405A>T | ENSP00000264832.2:p.Lys469Ter |
| ENST00000423829.2:c.739A>T | ENSP00000413124.2:p.Lys247Ter |