Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404780G>T , CM000665.2:g.190404780G>T | GRCh38 |
| NC_000003.11:g.190122569G>T , CM000665.1:g.190122569G>T | GRCh37 |
| NC_000003.10:g.191605263G>T | NCBI36 |
| NG_008149.1:g.21729G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.236G>T MANE Select | ENSP00000264734.3:p.Arg79Leu | |
| ENST00000456423.2:c.115-5123G>T | ENSP00000414136.2:n.115-5123G>T | |
| ENST00000264734.2:c.446G>T | ENSP00000264734.2:p.Arg149Leu | |
| ENST00000456423.1:c.325-5123G>T | ENSP00000414136.1:n.325-5123G>T | |
| ENST00000468220.1:n.428G>T | ||
| NM_006580.3:c.446G>T | NP_006571.1:p.Arg149Leu | |
| NM_001378492.1:c.236G>T | NP_001365421.1:p.Arg79Leu | |
| NM_001378493.1:c.236G>T | NP_001365422.1:p.Arg79Leu | |
| NM_006580.4:c.236G>T MANE Select | NP_006571.2:p.Arg79Leu |