Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95308134T>G , CM000669.2:g.95308134T>G | GRCh38 |
| NC_000007.13:g.94937446T>G , CM000669.1:g.94937446T>G | GRCh37 |
| NC_000007.12:g.94775382T>G | NCBI36 |
| NG_008779.1:g.21439A>C | |
| NG_008779.2:g.21573A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000446.7:c.575A>C MANE Select | NP_000437.3:p.Gln192Pro |
| ENST00000222381.8:c.575A>C MANE Select | ENSP00000222381.3:p.Gln192Pro |
| NM_000446.5:c.575A>C | NP_000437.3:p.Gln192Pro |
| NM_000446.6:c.575A>C | NP_000437.3:p.Gln192Pro |
| ENST00000222381.7:c.575A>C | ENSP00000222381.3:p.Gln192Pro |
| ENST00000433729.1:c.*300A>C | ENSP00000407359.1:n.*300A>C |