gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214781148G>A , CM000664.2:g.214781148G>A | GRCh38 |
| NC_000002.11:g.215645872G>A , CM000664.1:g.215645872G>A | GRCh37 |
| NC_000002.10:g.215354117G>A | NCBI36 |
| NG_012047.2:g.33557C>T | |
| NG_012047.3:g.33564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.726C>T MANE Select | ENSP00000260947.4:p.Phe242= | |
| ENST00000421162.2:c.215+15913C>T | ENSP00000392245.2:n.215+15913C>T | |
| ENST00000613192.2:c.158+28264C>T | ENSP00000483275.2:n.158+28264C>T | |
| ENST00000613374.5:c.158+28264C>T | ENSP00000484464.1:n.158+28264C>T | |
| ENST00000613706.5:c.726C>T | ENSP00000484976.2:p.Phe242= | |
| ENST00000617164.5:c.669C>T | ENSP00000480470.1:p.Phe223= | |
| ENST00000619009.5:c.364+11149C>T | ENSP00000482293.1:n.364+11149C>T | |
| ENST00000650978.1:c.568C>T | ||
| ENST00000260947.8:c.726C>T | ENSP00000260947.4:p.Phe242= | |
| ENST00000421162.1:c.215+15913C>T | ENSP00000392245.1:n.215+15913C>T | |
| ENST00000455743.5:c.*346C>T | ENSP00000412186.1:n.*346C>T | |
| ENST00000471787.1:n.621C>T | ||
| ENST00000613192.1:c.73+28264C>T | ENSP00000483275.1:n.73+28264C>T | |
| ENST00000613374.4:c.158+28264C>T | ENSP00000484464.1:n.158+28264C>T | |
| ENST00000613706.4:c.215+15913C>T | ENSP00000484976.1:n.215+15913C>T | |
| ENST00000617164.4:c.669C>T | ENSP00000480470.1:p.Phe223= | |
| ENST00000619009.4:c.364+11149C>T | ENSP00000482293.1:n.364+11149C>T | |
| ENST00000620057.4:c.364+11149C>T | ENSP00000481988.1:n.364+11149C>T | |
| NM_000465.3:c.726C>T | NP_000456.2:p.Phe242= | |
| NM_001282543.1:c.669C>T | NP_001269472.1:p.Phe223= | |
| NM_001282545.1:c.215+15913C>T | NP_001269474.1:n.215+15913C>T | |
| NM_001282548.1:c.158+28264C>T | NP_001269477.1:n.158+28264C>T | |
| NM_001282549.1:c.364+11149C>T | NP_001269478.1:n.364+11149C>T | |
| NR_104212.1:n.719C>T | ||
| NR_104215.1:n.662C>T | ||
| NR_104216.1:n.506+11149C>T | ||
| XM_011511567.1:c.672C>T | XP_011509869.1:p.Phe224= | |
| XM_011511568.1:c.726C>T | XP_011509870.1:p.Phe242= | |
| XM_017004613.1:c.825C>T | XP_016860102.1:p.Phe275= | |
| XM_017004614.1:c.825C>T | XP_016860103.1:p.Phe275= | |
| XR_002959322.1:n.916C>T | ||
| NM_000465.4:c.726C>T MANE Select | NP_000456.2:p.Phe242= | |
| NM_001282543.2:c.669C>T | NP_001269472.1:p.Phe223= | |
| NM_001282545.2:c.215+15913C>T | NP_001269474.1:n.215+15913C>T | |
| NM_001282548.2:c.158+28264C>T | NP_001269477.1:n.158+28264C>T | |
| NM_001282549.2:c.364+11149C>T | NP_001269478.1:n.364+11149C>T | |
| NR_104212.2:n.691C>T | ||
| NR_104215.2:n.634C>T | ||
| NR_104216.2:n.478+11149C>T |