Linked Data
ClinVar Variation Id:
347735
dbSNP Id:
rs149902988
ExAC:
4:149357274 T / A
gnomAD v2:
4-149357274-T-A
gnomAD v3:
4-148436122-T-A
gnomAD v4:
4-148436122-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148436122T>A , CM000666.2:g.148436122T>A | GRCh38 |
| NC_000004.11:g.149357274T>A , CM000666.1:g.149357274T>A | GRCh37 |
| NC_000004.10:g.149576724T>A | NCBI36 |
| NG_013350.1:g.11399A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.739A>T MANE Select | ENSP00000350815.3:p.Arg247Trp | |
| ENST00000342437.8:c.739A>T | ENSP00000343907.4:p.Arg247Trp | |
| ENST00000344721.8:c.739A>T | ENSP00000341390.4:p.Arg247Trp | |
| ENST00000358102.7:c.739A>T | ENSP00000350815.3:p.Arg247Trp | |
| ENST00000511528.1:c.739A>T | ENSP00000421481.1:p.Arg247Trp | |
| ENST00000512865.5:c.739A>T | ENSP00000423510.1:p.Arg247Trp | |
| ENST00000625323.2:c.739A>T | ENSP00000486719.1:p.Arg247Trp | |
| NM_000901.4:c.739A>T | NP_000892.2:p.Arg247Trp | |
| NM_001166104.1:c.739A>T | NP_001159576.1:p.Arg247Trp | |
| XM_011531975.1:c.739A>T | XP_011530277.1:p.Arg247Trp | |
| XM_011531976.1:c.739A>T | XP_011530278.1:p.Arg247Trp | |
| XM_011531977.1:c.739A>T | XP_011530279.1:p.Arg247Trp | |
| XM_011531978.1:c.739A>T | XP_011530280.1:p.Arg247Trp | |
| NM_001354819.1:c.739A>T | NP_001341748.1:p.Arg247Trp | |
| NR_148974.1:n.1102A>T | ||
| XM_011531978.2:c.739A>T | XP_011530280.1:p.Arg247Trp | |
| NM_000901.5:c.739A>T MANE Select | NP_000892.2:p.Arg247Trp | |
| NM_001166104.2:c.739A>T | NP_001159576.1:p.Arg247Trp | |
| NR_148974.2:n.996A>T |