Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174729349C>G , CM000667.2:g.174729349C>G | GRCh38 |
| NC_000005.9:g.174156352C>G , CM000667.1:g.174156352C>G | GRCh37 |
| NC_000005.8:g.174088958C>G | NCBI36 |
| NG_008124.1:g.9778C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.570C>G MANE Select | ENSP00000239243.5:p.Phe190Leu | |
| ENST00000239243.6:c.570C>G | ENSP00000239243.5:p.Phe190Leu | |
| ENST00000507785.2:c.*194C>G | ENSP00000427425.1:n.*194C>G | |
| NM_002449.4:c.570C>G | NP_002440.2:p.Phe190Leu | |
| NM_001363626.1:c.*194C>G | NP_001350555.1:n.*194C>G | |
| NM_002449.5:c.570C>G MANE Select | NP_002440.2:p.Phe190Leu | |
| NM_001363626.2:c.*194C>G | NP_001350555.1:n.*194C>G |