Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241519716G>A , CM000663.2:g.241519716G>A | GRCh38 |
| NC_000001.10:g.241683016G>A , CM000663.1:g.241683016G>A | GRCh37 |
| NC_000001.9:g.239749639G>A | NCBI36 |
| NG_012338.1:g.5039C>T , LRG_504:g.5039C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000143.4:c.7C>T MANE Select | NP_000134.2:p.Arg3Ter |
| ENST00000366560.4:c.7C>T MANE Select | ENSP00000355518.4:p.Arg3Ter |
| NM_000143.3:c.7C>T , LRG_504t1:c.7C>T | NP_000134.2:p.Arg3Ter |
| ENST00000366560.3:c.7C>T | ENSP00000355518.3:p.Arg3Ter |
| ENST00000682162.1:c.7C>T | ENSP00000508203.1:p.Arg3Ter |
| ENST00000682567.1:n.84C>T | |
| ENST00000683521.1:c.7C>T | ENSP00000506864.1:p.Arg3Ter |
| ENST00000684483.1:c.7C>T | ENSP00000507894.1:p.Arg3Ter |