ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214769289G>C , CM000664.2:g.214769289G>C | GRCh38 |
| NC_000002.11:g.215634013G>C , CM000664.1:g.215634013G>C | GRCh37 |
| NC_000002.10:g.215342258G>C | NCBI36 |
| NG_012047.2:g.45416C>G | |
| NG_012047.3:g.45423C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1338C>G MANE Select | ENSP00000260947.4:p.Tyr446Ter | |
| ENST00000421162.2:c.216-16734C>G | ENSP00000392245.2:n.216-16734C>G | |
| ENST00000613192.2:c.159-38781C>G | ENSP00000483275.2:n.159-38781C>G | |
| ENST00000613374.5:c.159-16734C>G | ENSP00000484464.1:n.159-16734C>G | |
| ENST00000613706.5:c.930C>G | ENSP00000484976.2:p.Tyr310Ter | |
| ENST00000617164.5:c.1281C>G | ENSP00000480470.1:p.Tyr427Ter | |
| ENST00000619009.5:c.364+23008C>G | ENSP00000482293.1:n.364+23008C>G | |
| ENST00000650978.1:c.2713C>G | ||
| ENST00000260947.8:c.1338C>G | ENSP00000260947.4:p.Tyr446Ter | |
| ENST00000421162.1:c.216-16734C>G | ENSP00000392245.1:n.216-16734C>G | |
| ENST00000455743.5:c.*958C>G | ENSP00000412186.1:n.*958C>G | |
| ENST00000613192.1:c.74-38781C>G | ENSP00000483275.1:n.74-38781C>G | |
| ENST00000613374.4:c.159-16734C>G | ENSP00000484464.1:n.159-16734C>G | |
| ENST00000613706.4:c.216-16734C>G | ENSP00000484976.1:n.216-16734C>G | |
| ENST00000617164.4:c.1281C>G | ENSP00000480470.1:p.Tyr427Ter | |
| ENST00000619009.4:c.364+23008C>G | ENSP00000482293.1:n.364+23008C>G | |
| ENST00000620057.4:c.*4C>G | ENSP00000481988.1:n.*4C>G | |
| NM_000465.3:c.1338C>G | NP_000456.2:p.Tyr446Ter | |
| NM_001282543.1:c.1281C>G | NP_001269472.1:p.Tyr427Ter | |
| NM_001282545.1:c.216-16734C>G | NP_001269474.1:n.216-16734C>G | |
| NM_001282548.1:c.159-16734C>G | NP_001269477.1:n.159-16734C>G | |
| NM_001282549.1:c.364+23008C>G | NP_001269478.1:n.364+23008C>G | |
| NR_104212.1:n.1331C>G | ||
| NR_104215.1:n.1274C>G | ||
| NR_104216.1:n.530C>G | ||
| XM_011511567.1:c.1284C>G | XP_011509869.1:p.Tyr428Ter | |
| XM_011511568.1:c.1338C>G | XP_011509870.1:p.Tyr446Ter | |
| XM_017004613.1:c.1437C>G | XP_016860102.1:p.Tyr479Ter | |
| XM_017004614.1:c.1437C>G | XP_016860103.1:p.Tyr479Ter | |
| XR_002959322.1:n.1528C>G | ||
| NM_000465.4:c.1338C>G MANE Select | NP_000456.2:p.Tyr446Ter | |
| NM_001282543.2:c.1281C>G | NP_001269472.1:p.Tyr427Ter | |
| NM_001282545.2:c.216-16734C>G | NP_001269474.1:n.216-16734C>G | |
| NM_001282548.2:c.159-16734C>G | NP_001269477.1:n.159-16734C>G | |
| NM_001282549.2:c.364+23008C>G | NP_001269478.1:n.364+23008C>G | |
| NR_104212.2:n.1303C>G | ||
| NR_104215.2:n.1246C>G | ||
| NR_104216.2:n.502C>G |