Linked Data
ClinVar Variation Id:
3161863
ClinVar RCV Id:
RCV004451209
dbSNP Id:
rs1162096983
gnomAD v3:
9-111758176-C-G
gnomAD v4:
9-111758176-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.111758176C>G , CM000671.2:g.111758176C>G | GRCh38 |
| NC_000009.11:g.114520456C>G , CM000671.1:g.114520456C>G | GRCh37 |
| NC_000009.10:g.113560277C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682571.1:c.-119-9977G>C | ENSP00000507667.1:n.-119-9977G>C | |
| ENST00000682961.1:c.616G>C MANE Select | ENSP00000508388.1:p.Glu206Gln | |
| ENST00000683745.1:c.424G>C | ENSP00000508033.1:p.Glu142Gln | |
| ENST00000683944.1:c.616G>C | ENSP00000507813.1:p.Glu206Gln | |
| ENST00000318737.8:c.424G>C | ENSP00000322108.4:p.Glu142Gln | |
| ENST00000374283.5:c.616G>C | ENSP00000363401.5:p.Glu206Gln | |
| ENST00000374287.7:c.424G>C | ENSP00000363405.3:p.Glu142Gln | |
| ENST00000394777.8:c.307G>C | ENSP00000378257.4:p.Glu103Gln | |
| ENST00000394779.7:c.307G>C | ENSP00000378259.3:p.Glu103Gln | |
| NM_001080551.2:c.307G>C | NP_001074020.2:p.Glu103Gln | |
| NM_173521.4:c.424G>C | NP_775792.4:p.Glu142Gln | |
| NR_109816.1:n.761G>C | ||
| XM_006716974.2:c.616G>C | XP_006717037.1:p.Glu206Gln | |
| XM_006716975.2:c.616G>C | XP_006717038.1:p.Glu206Gln | |
| XM_006716977.2:c.616G>C | XP_006717040.1:p.Glu206Gln | |
| XM_011518302.1:c.424G>C | XP_011516604.1:p.Glu142Gln | |
| XM_011518303.1:c.424G>C | XP_011516605.1:p.Glu142Gln | |
| XM_011518304.1:c.214G>C | XP_011516606.1:p.Glu72Gln | |
| XM_011518305.1:c.443-9977G>C | XP_011516607.1:n.443-9977G>C | |
| XM_011518306.1:c.49G>C | XP_011516608.1:p.Glu17Gln | |
| XM_011518307.1:c.251-9977G>C | XP_011516609.1:n.251-9977G>C | |
| XM_011518308.1:c.-36G>C | XP_011516610.1:n.-36G>C | |
| XM_011518309.1:c.616G>C | XP_011516611.1:p.Glu206Gln | |
| XM_011518302.2:c.424G>C | XP_011516604.1:p.Glu142Gln | |
| XM_017014340.1:c.277G>C | XP_016869829.1:p.Glu93Gln | |
| XM_017014341.1:c.616G>C | XP_016869830.1:p.Glu206Gln | |
| NM_001080551.3:c.307G>C | NP_001074020.3:p.Glu103Gln | |
| NM_173521.5:c.424G>C | NP_775792.5:p.Glu142Gln | |
| NR_109816.2:n.690G>C | ||
| NM_001378211.1:c.616G>C MANE Select | NP_001365140.1:p.Glu206Gln | |
| NM_001378212.1:c.307G>C | NP_001365141.1:p.Glu103Gln |