Linked Data
ClinVar Variation Id:
92641
dbSNP Id:
rs3755955
ExAC:
4:994414 G / A
gnomAD v2:
4-994414-G-A
gnomAD v3:
4-1000626-G-A
gnomAD v4:
4-1000626-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1000626G>A , CM000666.2:g.1000626G>A | GRCh38 |
| NC_000004.11:g.994414G>A , CM000666.1:g.994414G>A | GRCh37 |
| NC_000004.10:g.984414G>A | NCBI36 |
| NG_008103.1:g.18630G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.314G>A | ENSP00000247933.4:p.Arg105Gln | |
| ENST00000514224.2:c.314G>A MANE Select | ENSP00000425081.2:p.Arg105Gln | |
| ENST00000652070.1:n.370G>A | ||
| ENST00000247933.8:c.314G>A | ENSP00000247933.4:p.Arg105Gln | |
| ENST00000502910.5:c.173G>A | ENSP00000422952.1:p.Arg58Gln | |
| ENST00000504568.5:c.274G>A | ||
| ENST00000506561.5:n.323G>A | ||
| ENST00000508168.5:n.192G>A | ||
| ENST00000509948.5:c.107G>A | ENSP00000424227.1:p.Arg36Gln | |
| ENST00000514192.5:c.131G>A | ENSP00000423685.1:p.Arg44Gln | |
| ENST00000514224.1:c.-83G>A | ENSP00000425081.1:n.-83G>A | |
| ENST00000514698.5:n.214G>A | ||
| NM_000203.4:c.314G>A | NP_000194.2:p.Arg105Gln | |
| NR_110313.1:n.402G>A | ||
| XM_006713882.2:c.-83G>A | XP_006713945.1:n.-83G>A | |
| XM_011513459.1:c.173G>A | XP_011511761.1:p.Arg58Gln | |
| XM_011513460.1:c.173G>A | XP_011511762.1:p.Arg58Gln | |
| XM_011513461.1:c.107G>A | XP_011511763.1:p.Arg36Gln | |
| XM_011513462.1:c.-159G>A | XP_011511764.1:n.-159G>A | |
| XM_011513463.1:c.-159G>A | XP_011511765.1:n.-159G>A | |
| XR_924947.1:n.383G>A | ||
| NM_000203.5:c.314G>A MANE Select | NP_000194.2:p.Arg105Gln | |
| NM_001363576.1:c.-83G>A | NP_001350505.1:n.-83G>A | |
| XM_011513461.2:c.107G>A | XP_011511763.1:p.Arg36Gln | |
| XM_017008163.1:c.-1153G>A | XP_016863652.1:n.-1153G>A |