Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031330C>A , CM000667.2:g.135031330C>A | GRCh38 |
| NC_000005.9:g.134367020C>A , CM000667.1:g.134367020C>A | GRCh37 |
| NC_000005.8:g.134394919C>A | NCBI36 |
| NG_012114.1:g.7945G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.348G>T MANE Select | ENSP00000265340.6:p.Met116Ile | |
| ENST00000265340.11:c.348G>T | ENSP00000265340.6:p.Met116Ile | |
| ENST00000503586.1:c.470G>T | ||
| ENST00000504936.1:n.681G>T | ||
| ENST00000506438.5:c.348G>T | ENSP00000427542.1:p.Met116Ile | |
| ENST00000507253.5:c.348G>T | ENSP00000422908.1:p.Met116Ile | |
| NM_002653.4:c.348G>T | NP_002644.4:p.Met116Ile | |
| NM_002653.5:c.348G>T MANE Select | NP_002644.4:p.Met116Ile |