Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122451978T>G , CM000666.2:g.122451978T>G | GRCh38 |
| NC_000004.11:g.123373133T>G , CM000666.1:g.123373133T>G | GRCh37 |
| NC_000004.10:g.123592583T>G | NCBI36 |
| NG_016779.1:g.9518A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000586.4:c.352-116A>C MANE Select | NP_000577.2:n.352-116A>C |
| ENST00000226730.5:c.352-116A>C MANE Select | ENSP00000226730.5:n.352-116A>C |
| NM_000586.3:c.352-116A>C | NP_000577.2:n.352-116A>C |
| ENST00000226730.4:c.352-116A>C | ENSP00000226730.4:n.352-116A>C |
| ENST00000477645.1:n.442-116A>C | |
| XM_017008177.1:c.351+1732A>C | XP_016863666.1:n.351+1732A>C |