Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.121048362G>C , CM000685.2:g.121048362G>C | GRCh38 |
| NC_000023.10:g.120182216G>C , CM000685.1:g.120182216G>C | GRCh37 |
| NC_000023.9:g.120009897G>C | NCBI36 |
| NG_016456.1:g.5755G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328078.3:c.678G>C MANE Select | ENSP00000327589.1:p.Met226Ile | |
| ENST00000328078.2:c.678G>C | ENSP00000327589.1:p.Met226Ile | |
| NM_012084.3:c.678G>C | NP_036216.2:p.Met226Ile | |
| NM_012084.4:c.678G>C MANE Select | NP_036216.2:p.Met226Ile |