Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116830585G>C , CM000673.2:g.116830585G>C | GRCh38 |
| NC_000011.9:g.116701301G>C , CM000673.1:g.116701301G>C | GRCh37 |
| NC_000011.8:g.116206511G>C | NCBI36 |
| NG_008949.1:g.5678G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.3G>C MANE Select | ENSP00000227667.2:p.Met1Ile | |
| ENST00000227667.7:c.3G>C | ENSP00000227667.2:p.Met1Ile | |
| ENST00000375345.3:c.57G>C | ENSP00000364494.1:p.Met19Ile | |
| ENST00000433777.5:c.3G>C | ENSP00000410614.1:p.Met1Ile | |
| ENST00000470144.1:n.35G>C | ||
| ENST00000630701.1:c.57G>C | ENSP00000486182.1:p.Met19Ile | |
| NM_000040.1:c.3G>C | NP_000031.1:p.Met1Ile | |
| NM_000040.2:c.3G>C | NP_000031.1:p.Met1Ile | |
| NM_000040.3:c.3G>C MANE Select | NP_000031.1:p.Met1Ile |