ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71828064C>A , CM000672.2:g.71828064C>A | GRCh38 |
| NC_000010.10:g.73587821C>A , CM000672.1:g.73587821C>A | GRCh37 |
| NC_000010.9:g.73257827C>A | NCBI36 |
| NG_009301.1:g.28262G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.670G>T MANE Select | ENSP00000378394.3:p.Glu224Ter | |
| ENST00000394934.4:c.670G>T | ENSP00000378392.2:p.Glu224Ter | |
| ENST00000394936.7:c.670G>T | ENSP00000378394.3:p.Glu224Ter | |
| ENST00000610929.3:c.270+3167G>T | ENSP00000480857.1:n.270+3167G>T | |
| ENST00000633965.1:c.71G>T | ||
| NM_001042465.1:c.670G>T | NP_001035930.1:p.Glu224Ter | |
| NM_001042466.1:c.670G>T | NP_001035931.1:p.Glu224Ter | |
| NM_002778.2:c.670G>T | NP_002769.1:p.Glu224Ter | |
| NM_001042465.2:c.670G>T | NP_001035930.1:p.Glu224Ter | |
| NM_001042466.2:c.670G>T | NP_001035931.1:p.Glu224Ter | |
| NM_002778.3:c.670G>T | NP_002769.1:p.Glu224Ter | |
| NM_002778.4:c.670G>T MANE Select | NP_002769.1:p.Glu224Ter | |
| NM_001042465.3:c.670G>T | NP_001035930.1:p.Glu224Ter | |
| NM_001042466.3:c.670G>T | NP_001035931.1:p.Glu224Ter |