Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47373221A>C , CM000664.2:g.47373221A>C | GRCh38 |
| NC_000002.11:g.47600360A>C , CM000664.1:g.47600360A>C | GRCh37 |
| NC_000002.10:g.47453864A>C | NCBI36 |
| NG_012352.2:g.33059A>C , LRG_215:g.33059A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.3:c.77-242A>C MANE Select | NP_002345.2:n.77-242A>C |
| ENST00000263735.9:c.77-242A>C MANE Select | ENSP00000263735.4:n.77-242A>C |
| NM_002354.2:c.77-242A>C , LRG_215t1:c.77-242A>C | NP_002345.2:n.77-242A>C |
| ENST00000263735.8:c.77-242A>C | ENSP00000263735.4:n.77-242A>C |
| ENST00000405271.5:c.161-242A>C | ENSP00000385476.1:n.161-242A>C |
| ENST00000419334.1:c.305-242A>C | ENSP00000389028.1:n.305-242A>C |
| ENST00000456133.5:c.161-242A>C | ENSP00000410675.1:n.161-242A>C |
| ENST00000474691.1:n.108-242A>C |