Linked Data
ClinVar Variation Id:
852260
ClinVar RCV Id:
RCV001056832
dbSNP Id:
rs764126853
gnomAD v4:
X-67545609-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67545609G>T , CM000685.2:g.67545609G>T | GRCh38 |
| NC_000023.10:g.66765451G>T , CM000685.1:g.66765451G>T | GRCh37 |
| NC_000023.9:g.66682176G>T | NCBI36 |
| NG_009014.2:g.6578G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.463G>T | ENSP00000379358.4:p.Glu155Ter | |
| ENST00000374690.9:c.463G>T MANE Select | ENSP00000363822.3:p.Glu155Ter | |
| ENST00000396044.8:c.463G>T | ENSP00000379359.3:p.Glu155Ter | |
| ENST00000612452.5:c.463G>T | ENSP00000484033.2:p.Glu155Ter | |
| ENST00000374690.7:c.463G>T | ENSP00000363822.3:p.Glu155Ter | |
| ENST00000396044.7:c.463G>T | ENSP00000379359.3:p.Glu155Ter | |
| ENST00000504326.5:c.463G>T | ENSP00000421155.1:p.Glu155Ter | |
| ENST00000513847.5:n.790G>T | ||
| ENST00000514029.5:c.463G>T | ENSP00000425199.1:p.Glu155Ter | |
| ENST00000612010.4:c.463G>T | ENSP00000482407.1:p.Glu155Ter | |
| ENST00000612452.4:c.-108G>T | ENSP00000484033.1:n.-108G>T | |
| ENST00000613054.2:c.463G>T | ENSP00000479013.1:p.Glu155Ter | |
| NM_000044.3:c.463G>T | NP_000035.2:p.Glu155Ter | |
| NM_000044.4:c.463G>T | NP_000035.2:p.Glu155Ter | |
| NM_001011645.3:c.-1321G>T | NP_001011645.1:n.-1321G>T | |
| NM_001348061.1:c.463G>T | NP_001334990.1:p.Glu155Ter | |
| NM_001348063.1:c.463G>T | NP_001334992.1:p.Glu155Ter | |
| NM_001348064.1:c.463G>T | NP_001334993.1:p.Glu155Ter | |
| NM_000044.6:c.463G>T MANE Select | NP_000035.2:p.Glu155Ter |