ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406561C>A , CM000663.2:g.2406561C>A | GRCh38 |
| NC_000001.10:g.2338000C>A , CM000663.1:g.2338000C>A | GRCh37 |
| NC_000001.9:g.2327860C>A | NCBI36 |
| NG_008342.1:g.11011G>T | |
| NG_016128.1:g.19787C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.895G>T | ENSP00000288774.3:p.Glu299Ter | |
| ENST00000447513.7:c.835G>T MANE Select | ENSP00000407922.2:p.Glu279Ter | |
| ENST00000650293.1:c.789G>T | ||
| ENST00000288774.7:c.895G>T | ENSP00000288774.3:p.Glu299Ter | |
| ENST00000447513.6:c.835G>T | ENSP00000407922.2:p.Glu279Ter | |
| ENST00000507596.5:c.835G>T | ENSP00000424291.1:p.Glu279Ter | |
| ENST00000510434.1:c.*201G>T | ENSP00000423051.1:n.*201G>T | |
| NM_002617.3:c.835G>T | NP_002608.1:p.Glu279Ter | |
| NM_153818.1:c.895G>T | NP_722540.1:p.Glu299Ter | |
| XM_011541573.1:c.892G>T | XP_011539875.1:p.Glu298Ter | |
| XM_011541574.1:c.460G>T | XP_011539876.1:p.Glu154Ter | |
| XM_011541575.1:c.460G>T | XP_011539877.1:p.Glu154Ter | |
| XR_946666.1:n.951G>T | ||
| XR_946666.2:n.900G>T | ||
| NM_001374425.1:c.892G>T | NP_001361354.1:p.Glu298Ter | |
| NM_001374426.1:c.460G>T | NP_001361355.1:p.Glu154Ter | |
| NM_001374427.1:c.403G>T | NP_001361356.1:p.Glu135Ter | |
| NM_002617.4:c.835G>T MANE Select | NP_002608.1:p.Glu279Ter | |
| NM_153818.2:c.895G>T | NP_722540.1:p.Glu299Ter | |
| NR_164636.1:n.950G>T |