Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.8867621C>G , CM000666.2:g.8867621C>G | GRCh38 |
| NC_000004.11:g.8869347C>G , CM000666.1:g.8869347C>G | GRCh37 |
| NG_013062.1:g.9197G>C | |
| NG_013062.2:g.9197G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400677.5:c.*72G>C MANE Select | ENSP00000383516.3:n.*72G>C | |
| ENST00000400677.4:c.*72G>C | ENSP00000383516.3:n.*72G>C | |
| ENST00000506970.2:c.394+3600G>C | ENSP00000446997.2:n.394+3600G>C | |
| ENST00000617742.1:c.1105G>C | ENSP00000479086.1:p.Gly369Arg | |
| NM_001306142.1:c.394+3600G>C | NP_001293071.1:n.394+3600G>C | |
| NM_018942.2:c.*72G>C | NP_061815.2:n.*72G>C | |
| NM_018942.3:c.*72G>C MANE Select | NP_061815.2:n.*72G>C | |
| NM_001306142.2:c.394+3600G>C | NP_001293071.1:n.394+3600G>C |