Linked Data
ClinVar Variation Id:
4268
ClinVar RCV Id:
RCV000004489
dbSNP Id:
rs119473031
ExAC:
2:238402172 C / T
gnomAD v2:
2-238402172-C-T
gnomAD v3:
2-237493529-C-T
gnomAD v4:
2-237493529-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237493529C>T , CM000664.2:g.237493529C>T | GRCh38 |
| NC_000002.11:g.238402172C>T , CM000664.1:g.238402172C>T | GRCh37 |
| NC_000002.10:g.238066911C>T | NCBI36 |
| NG_007286.1:g.11243C>T , LRG_83:g.11243C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264605.8:c.103C>T MANE Select | ENSP00000264605.3:p.Arg35Trp | |
| ENST00000264605.7:c.103C>T | ENSP00000264605.3:p.Arg35Trp | |
| ENST00000338530.8:c.103C>T | ENSP00000341845.4:p.Arg35Trp | |
| ENST00000409373.5:c.103C>T | ENSP00000386780.1:p.Arg35Trp | |
| ENST00000410032.5:c.103C>T | ENSP00000386338.1:p.Arg35Trp | |
| ENST00000422695.5:c.103C>T | ENSP00000409170.1:p.Arg35Trp | |
| ENST00000429898.5:c.103C>T | ENSP00000403909.1:p.Arg35Trp | |
| ENST00000468178.5:n.314C>T | ||
| ENST00000469619.5:n.290C>T | ||
| ENST00000477222.5:n.314C>T | ||
| NM_001042467.2:c.103C>T | NP_001035932.1:p.Arg35Trp | |
| NM_001281473.1:c.103C>T | NP_001268402.1:p.Arg35Trp | |
| NM_001281474.1:c.103C>T | NP_001268403.1:p.Arg35Trp | |
| NM_024101.6:c.103C>T | NP_077006.1:p.Arg35Trp | |
| NR_104019.1:n.346C>T | ||
| XM_006712737.1:c.103C>T | XP_006712800.1:p.Arg35Trp | |
| XM_006712739.1:c.103C>T | XP_006712802.1:p.Arg35Trp | |
| XM_006712740.1:c.103C>T | XP_006712803.1:p.Arg35Trp | |
| XM_011511811.1:c.103C>T | XP_011510113.1:p.Arg35Trp | |
| XR_923025.1:n.314C>T | ||
| XM_017004893.1:c.103C>T | XP_016860382.1:p.Arg35Trp | |
| XM_017004894.2:c.103C>T | XP_016860383.1:p.Arg35Trp | |
| NM_024101.7:c.103C>T MANE Select | NP_077006.1:p.Arg35Trp | |
| NM_001042467.3:c.103C>T | NP_001035932.1:p.Arg35Trp | |
| NM_001281473.2:c.103C>T | NP_001268402.1:p.Arg35Trp | |
| NM_001281474.2:c.103C>T | NP_001268403.1:p.Arg35Trp | |
| NR_104019.2:n.314C>T |