Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8073277C>T , CM000679.2:g.8073277C>T | GRCh38 |
| NC_000017.10:g.7976595C>T , CM000679.1:g.7976595C>T | GRCh37 |
| NC_000017.9:g.7917320C>T | NCBI36 |
| NG_007099.1:g.19427G>A | |
| NG_007099.2:g.19440G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.1797G>A MANE Select | NP_001130.1:p.Met599Ile |
| ENST00000647874.1:c.1797G>A MANE Select | ENSP00000497784.1:p.Met599Ile |
| NM_001139.2:c.1797G>A | NP_001130.1:p.Met599Ile |
| ENST00000319144.4:c.1797G>A | ENSP00000315167.4:p.Met599Ile |
| ENST00000577351.5:n.521G>A | |
| ENST00000649809.1:c.861G>A | ENSP00000496845.1:p.Met287Ile |
| ENST00000650441.1:n.220G>A |