Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280308C>G , CM000672.2:g.80280308C>G | GRCh38 |
| NC_000010.10:g.82040064C>G , CM000672.1:g.82040064C>G | GRCh37 |
| NC_000010.9:g.82030044C>G | NCBI36 |
| NG_008083.1:g.14371G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.414G>C MANE Select | ENSP00000361287.3:p.Met138Ile | |
| ENST00000372213.7:c.414G>C | ENSP00000361287.3:p.Met138Ile | |
| ENST00000455001.1:c.225G>C | ENSP00000414961.1:p.Met75Ile | |
| NM_000429.2:c.414G>C | NP_000420.1:p.Met138Ile | |
| XM_005269842.3:c.414G>C | XP_005269899.1:p.Met138Ile | |
| XM_005269843.3:c.291G>C | XP_005269900.1:p.Met97Ile | |
| NM_000429.3:c.414G>C MANE Select | NP_000420.1:p.Met138Ile |