Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404787G>C , CM000665.2:g.190404787G>C | GRCh38 |
| NC_000003.11:g.190122576G>C , CM000665.1:g.190122576G>C | GRCh37 |
| NC_000003.10:g.191605270G>C | NCBI36 |
| NG_008149.1:g.21736G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006580.4:c.243G>C MANE Select | NP_006571.2:p.Leu81Phe |
| ENST00000264734.3:c.243G>C MANE Select | ENSP00000264734.3:p.Leu81Phe |
| NM_001378492.1:c.243G>C | NP_001365421.1:p.Leu81Phe |
| NM_001378493.1:c.243G>C | NP_001365422.1:p.Leu81Phe |
| NM_006580.3:c.453G>C | NP_006571.1:p.Leu151Phe |
| ENST00000264734.2:c.453G>C | ENSP00000264734.2:p.Leu151Phe |
| ENST00000456423.1:c.325-5116G>C | ENSP00000414136.1:n.325-5116G>C |
| ENST00000456423.2:c.115-5116G>C | ENSP00000414136.2:n.115-5116G>C |
| ENST00000468220.1:n.435G>C |