Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909407G>C , CM000679.2:g.42909407G>C | GRCh38 |
| NC_000017.10:g.41061424G>C , CM000679.1:g.41061424G>C | GRCh37 |
| NC_000017.9:g.38314950G>C | NCBI36 |
| NG_011808.1:g.13610G>C , LRG_147:g.13610G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000151.4:c.551G>C MANE Select | NP_000142.2:p.Gly184Ala |
| ENST00000253801.7:c.551G>C MANE Select | ENSP00000253801.1:p.Gly184Ala |
| NM_000151.3:c.551G>C | NP_000142.2:p.Gly184Ala |
| NM_001270397.1:c.474G>C | NP_001257326.1:p.Trp158Cys |
| NM_001270397.2:c.474G>C | NP_001257326.1:p.Trp158Cys |
| ENST00000253801.6:c.551G>C | ENSP00000253801.1:p.Gly184Ala |
| ENST00000585489.1:c.447-1508G>C | ENSP00000466202.1:n.447-1508G>C |
| ENST00000592383.5:c.474G>C | ENSP00000465958.1:p.Trp158Cys |