Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153782444T>G , CM000666.2:g.153782444T>G | GRCh38 |
| NC_000004.11:g.154703596T>G , CM000666.1:g.154703596T>G | GRCh37 |
| NC_000004.10:g.154923046T>G | NCBI36 |
| NG_046941.1:g.11633A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003013.3:c.584-689A>C MANE Select | NP_003004.1:n.584-689A>C |
| ENST00000274063.5:c.584-689A>C MANE Select | ENSP00000274063.4:n.584-689A>C |
| NM_003013.2:c.584-689A>C | NP_003004.1:n.584-689A>C |
| ENST00000274063.4:c.584-689A>C | ENSP00000274063.4:n.584-689A>C |