Linked Data
ClinVar Variation Id:
550605
dbSNP Id:
rs201268637
ExAC:
4:995664 A / T
gnomAD v2:
4-995664-A-T
gnomAD v3:
4-1001876-A-T
gnomAD v4:
4-1001876-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001876A>T , CM000666.2:g.1001876A>T | GRCh38 |
| NC_000004.11:g.995664A>T , CM000666.1:g.995664A>T | GRCh37 |
| NC_000004.10:g.985664A>T | NCBI36 |
| NG_008103.1:g.19880A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.787A>T | ENSP00000247933.4:p.Arg263Trp | |
| ENST00000514224.2:c.787A>T MANE Select | ENSP00000425081.2:p.Arg263Trp | |
| ENST00000652070.1:n.843A>T | ||
| ENST00000247933.8:c.787A>T | ENSP00000247933.4:p.Arg263Trp | |
| ENST00000502910.5:c.646A>T | ENSP00000422952.1:p.Arg216Trp | |
| ENST00000514192.5:c.604A>T | ENSP00000423685.1:p.Arg202Trp | |
| ENST00000514224.1:c.391A>T | ENSP00000425081.1:p.Arg131Trp | |
| ENST00000514698.5:n.687A>T | ||
| NM_000203.4:c.787A>T | NP_000194.2:p.Arg263Trp | |
| NR_110313.1:n.875A>T | ||
| XM_006713882.2:c.391A>T | XP_006713945.1:p.Arg131Trp | |
| XM_011513459.1:c.646A>T | XP_011511761.1:p.Arg216Trp | |
| XM_011513460.1:c.646A>T | XP_011511762.1:p.Arg216Trp | |
| XM_011513461.1:c.580A>T | XP_011511763.1:p.Arg194Trp | |
| XM_011513462.1:c.499A>T | XP_011511764.1:p.Arg167Trp | |
| XM_011513463.1:c.499A>T | XP_011511765.1:p.Arg167Trp | |
| XR_924947.1:n.856A>T | ||
| NM_000203.5:c.787A>T MANE Select | NP_000194.2:p.Arg263Trp | |
| NM_001363576.1:c.391A>T | NP_001350505.1:p.Arg131Trp | |
| XM_011513461.2:c.580A>T | XP_011511763.1:p.Arg194Trp | |
| XM_017008163.1:c.-174A>T | XP_016863652.1:n.-174A>T |