Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61152857T>C , CM000667.2:g.61152857T>C | GRCh38 |
| NC_000005.9:g.60448684T>C , CM000667.1:g.60448684T>C | GRCh37 |
| NC_000005.8:g.60484441T>C | NCBI36 |
| NG_008978.1:g.212729T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174889.5:c.412T>C MANE Select | NP_777549.1:p.Phe138Leu |
| ENST00000296597.10:c.412T>C MANE Select | ENSP00000296597.5:p.Phe138Leu |
| NM_174889.4:c.412T>C | NP_777549.1:p.Phe138Leu |
| ENST00000296597.9:c.412T>C | ENSP00000296597.5:p.Phe138Leu |
| ENST00000502658.1:c.292T>C | |
| ENST00000511107.1:c.*185T>C | ENSP00000423377.1:n.*185T>C |
| ENST00000512623.1:n.537T>C | |
| ENST00000677756.1:c.*428T>C | ENSP00000503642.1:n.*428T>C |
| ENST00000678452.1:c.*242T>C | ENSP00000504248.1:n.*242T>C |