Linked Data
ClinVar Variation Id:
1502
dbSNP Id:
rs118204093
gnomAD v4:
17-75957555-G-A
PubMed:
PMID:17458872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75957555G>A , CM000679.2:g.75957555G>A | GRCh38 |
| NC_000017.10:g.73953636G>A , CM000679.1:g.73953636G>A | GRCh37 |
| NC_000017.9:g.71465231G>A | NCBI36 |
| NG_008190.1:g.26809C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301608.9:c.442C>T | ENSP00000301608.4:p.Arg148Ter | |
| ENST00000293217.10:c.442C>T MANE Select | ENSP00000293217.4:p.Arg148Ter | |
| ENST00000293217.9:c.442C>T | ENSP00000293217.4:p.Arg148Ter | |
| ENST00000301608.8:c.442C>T | ENSP00000301608.4:p.Arg148Ter | |
| ENST00000572047.5:c.616C>T | ENSP00000459936.1:n.616C>T | |
| ENST00000573078.5:c.603C>T | ENSP00000458325.1:p.Phe201= | |
| ENST00000588176.5:c.431-1608C>T | ENSP00000466210.1:n.431-1608C>T | |
| ENST00000589301.1:c.*239C>T | ENSP00000468435.1:n.*239C>T | |
| ENST00000591857.5:n.460C>T | ||
| NM_001185039.1:c.328C>T | NP_001171968.1:p.Arg110Ter | |
| NM_004035.6:c.442C>T | NP_004026.2:p.Arg148Ter | |
| NM_007292.5:c.442C>T | NP_009223.2:p.Arg148Ter | |
| XM_011524868.1:c.238C>T | XP_011523170.1:p.Arg80Ter | |
| XM_011524869.1:c.34C>T | XP_011523171.1:p.Arg12Ter | |
| XM_011524868.3:c.238C>T | XP_011523170.1:p.Arg80Ter | |
| XM_011524869.3:c.34C>T | XP_011523171.1:p.Arg12Ter | |
| NM_004035.7:c.442C>T MANE Select | NP_004026.2:p.Arg148Ter | |
| NM_001185039.2:c.328C>T | NP_001171968.1:p.Arg110Ter | |
| NM_007292.6:c.442C>T | NP_009223.2:p.Arg148Ter |