Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911026T>C , CM000679.2:g.42911026T>C | GRCh38 |
| NC_000017.10:g.41063043T>C , CM000679.1:g.41063043T>C | GRCh37 |
| NC_000017.9:g.38316569T>C | NCBI36 |
| NG_011808.1:g.15229T>C , LRG_147:g.15229T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000151.4:c.674T>C MANE Select | NP_000142.2:p.Leu225Pro |
| ENST00000253801.7:c.674T>C MANE Select | ENSP00000253801.1:p.Leu225Pro |
| NM_000151.3:c.674T>C | NP_000142.2:p.Leu225Pro |
| NM_001270397.1:c.*66T>C | NP_001257326.1:n.*66T>C |
| NM_001270397.2:c.*66T>C | NP_001257326.1:n.*66T>C |
| ENST00000253801.6:c.674T>C | ENSP00000253801.1:p.Leu225Pro |
| ENST00000585489.1:c.*66T>C | ENSP00000466202.1:n.*66T>C |
| ENST00000592383.5:c.*66T>C | ENSP00000465958.1:n.*66T>C |