Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.68371788A>C , CM000664.2:g.68371788A>C | GRCh38 |
| NC_000002.11:g.68598920A>C , CM000664.1:g.68598920A>C | GRCh37 |
| NC_000002.10:g.68452424A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234313.8:c.42+6395A>C MANE Select | ENSP00000234313.7:n.42+6395A>C | |
| ENST00000234313.7:c.42+6395A>C | ENSP00000234313.7:n.42+6395A>C | |
| NM_002664.2:c.42+6395A>C | NP_002655.2:n.42+6395A>C | |
| XM_011532916.1:c.42+6395A>C | XP_011531218.1:n.42+6395A>C | |
| NM_002664.3:c.42+6395A>C MANE Select | NP_002655.2:n.42+6395A>C |