Linked Data
ClinVar Variation Id:
431145
ClinVar RCV Id:
RCV000496153
dbSNP Id:
rs1135401814
gnomAD v4:
10-72423263-G-A
COSMIC:
COSM5012171
PubMed:
PMID:28708303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72423263G>A , CM000672.2:g.72423263G>A | GRCh38 |
| NC_000010.10:g.74183021G>A , CM000672.1:g.74183021G>A | GRCh37 |
| NC_000010.9:g.73853027G>A | NCBI36 |
| NG_033179.1:g.207929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361114.10:c.1042C>T MANE Select | ENSP00000354415.5:p.Gln348Ter | |
| ENST00000642044.1:c.1060C>T | ENSP00000493232.1:p.Gln354Ter | |
| ENST00000361114.9:c.1042C>T | ENSP00000354415.5:p.Gln348Ter | |
| ENST00000398761.8:c.1048C>T | ENSP00000381745.5:p.Gln350Ter | |
| ENST00000398763.8:c.448C>T | ENSP00000381747.4:p.Gln150Ter | |
| ENST00000418483.6:c.448C>T | ENSP00000402470.2:p.Gln150Ter | |
| ENST00000476605.7:c.569C>T | ||
| ENST00000489666.2:c.448C>T | ENSP00000474809.1:p.Gln150Ter | |
| ENST00000635239.1:c.1054C>T | ENSP00000489563.1:p.Gln352Ter | |
| NM_001195518.1:c.1042C>T | NP_001182447.1:p.Gln348Ter | |
| NM_001195519.1:c.448C>T | NP_001182448.1:p.Gln150Ter | |
| NM_006077.3:c.1048C>T | NP_006068.2:p.Gln350Ter | |
| XM_005269383.1:c.1060C>T | XP_005269440.1:p.Gln354Ter | |
| XM_005269384.1:c.1054C>T | XP_005269441.1:p.Gln352Ter | |
| XM_005269386.1:c.358C>T | XP_005269443.1:p.Gln120Ter | |
| XM_011539119.1:c.1210C>T | XP_011537421.1:p.Gln404Ter | |
| XR_945585.1:n.1297C>T | ||
| XR_945586.1:n.1129C>T | ||
| NM_001363513.1:c.1060C>T | NP_001350442.1:p.Gln354Ter | |
| XM_005269386.2:c.358C>T | XP_005269443.1:p.Gln120Ter | |
| XR_001746993.2:n.1298C>T | ||
| XR_001746994.2:n.1136C>T | ||
| XR_945586.2:n.1130C>T | ||
| NM_001195518.2:c.1042C>T MANE Select | NP_001182447.1:p.Gln348Ter | |
| NM_001195519.2:c.448C>T | NP_001182448.1:p.Gln150Ter | |
| NM_001363513.2:c.1060C>T | NP_001350442.1:p.Gln354Ter | |
| NM_006077.4:c.1048C>T | NP_006068.2:p.Gln350Ter |