Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22844424G>C , CM000676.2:g.22844424G>C | GRCh38 |
| NC_000014.8:g.23313633G>C , CM000676.1:g.23313633G>C | GRCh37 |
| NC_000014.7:g.22383473G>C | NCBI36 |
| NG_046989.1:g.12892G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004995.4:c.1065G>C MANE Select | NP_004986.1:p.Met355Ile |
| ENST00000311852.11:c.1065G>C MANE Select | ENSP00000308208.6:p.Met355Ile |
| NM_004995.3:c.1065G>C | NP_004986.1:p.Met355Ile |
| ENST00000311852.10:c.1065G>C | ENSP00000308208.6:p.Met355Ile |
| ENST00000548162.1:n.1307G>C | |
| ENST00000548162.2:c.1065G>C | ENSP00000506068.1:p.Met355Ile |
| ENST00000680097.1:c.*380G>C | ENSP00000506631.1:n.*380G>C |
| ENST00000680941.1:c.*463G>C | ENSP00000506378.1:n.*463G>C |