Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241519722T>G , CM000663.2:g.241519722T>G | GRCh38 |
| NC_000001.10:g.241683022T>G , CM000663.1:g.241683022T>G | GRCh37 |
| NC_000001.9:g.239749645T>G | NCBI36 |
| NG_012338.1:g.5033A>C , LRG_504:g.5033A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000143.4:c.1A>C MANE Select | NP_000134.2:p.Met1Leu |
| ENST00000366560.4:c.1A>C MANE Select | ENSP00000355518.4:p.Met1Leu |
| NM_000143.3:c.1A>C , LRG_504t1:c.1A>C | NP_000134.2:p.Met1Leu |
| ENST00000366560.3:c.1A>C | ENSP00000355518.3:p.Met1Leu |
| ENST00000682162.1:c.1A>C | ENSP00000508203.1:p.Met1Leu |
| ENST00000682567.1:n.78A>C | |
| ENST00000683521.1:c.1A>C | ENSP00000506864.1:p.Met1Leu |
| ENST00000684483.1:c.1A>C | ENSP00000507894.1:p.Met1Leu |