Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46323630G>C , CM000664.2:g.46323630G>C | GRCh38 |
| NC_000002.11:g.46550769G>C , CM000664.1:g.46550769G>C | GRCh37 |
| NC_000002.10:g.46404273G>C | NCBI36 |
| NG_016000.1:g.31229G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001430.5:c.27-23243G>C MANE Select | NP_001421.2:n.27-23243G>C |
| ENST00000263734.5:c.27-23243G>C MANE Select | ENSP00000263734.3:n.27-23243G>C |
| NM_001430.4:c.27-23243G>C | NP_001421.2:n.27-23243G>C |
| ENST00000263734.4:c.27-23243G>C | ENSP00000263734.3:n.27-23243G>C |
| ENST00000449347.5:c.27-23243G>C | ENSP00000406137.1:n.27-23243G>C |
| ENST00000460015.1:n.433-23243G>C | |
| ENST00000467888.5:n.175-23243G>C | |
| XR_940055.1:n.2356-9392C>G |