Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232695C>T , CM000667.2:g.173232695C>T | GRCh38 |
| NC_000005.9:g.172659698C>T , CM000667.1:g.172659698C>T | GRCh37 |
| NC_000005.8:g.172592304C>T | NCBI36 |
| NG_013340.1:g.7618G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004387.4:c.849G>A MANE Select | NP_004378.1:p.Pro283= |
| ENST00000329198.5:c.849G>A MANE Select | ENSP00000327758.4:p.Pro283= |
| NM_001166175.1:c.*802G>A | NP_001159647.1:n.*802G>A |
| NM_001166175.2:c.*802G>A | NP_001159647.1:n.*802G>A |
| NM_001166176.1:c.*648G>A | NP_001159648.1:n.*648G>A |
| NM_001166176.2:c.*648G>A | NP_001159648.1:n.*648G>A |
| NM_004387.3:c.849G>A | NP_004378.1:p.Pro283= |
| ENST00000329198.4:c.849G>A | ENSP00000327758.4:p.Pro283= |