Linked Data
ClinVar Variation Id:
242914
dbSNP Id:
rs561111097
ExAC:
8:72267020 C / G
gnomAD v2:
8-72267020-C-G
gnomAD v3:
8-71354785-C-G
gnomAD v4:
8-71354785-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71354785C>G , CM000670.2:g.71354785C>G | GRCh38 |
| NC_000008.10:g.72267020C>G , CM000670.1:g.72267020C>G | GRCh37 |
| NC_000008.9:g.72429574C>G | NCBI36 |
| NG_011735.2:g.12448G>C | |
| NG_011735.3:g.198346G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340726.8:c.121G>C MANE Select | ENSP00000342626.3:p.Glu41Gln | |
| ENST00000388741.7:c.25+1677G>C | ENSP00000373393.2:n.25+1677G>C | |
| ENST00000419131.6:c.121G>C | ENSP00000410176.1:p.Glu41Gln | |
| ENST00000465115.6:c.121G>C | ENSP00000428391.1:p.Glu41Gln | |
| ENST00000496494.6:n.265G>C | ||
| ENST00000642391.1:c.121G>C | ENSP00000496700.1:p.Glu41Gln | |
| ENST00000643681.1:c.208G>C | ENSP00000495390.1:p.Glu70Gln | |
| ENST00000644229.1:c.208G>C | ENSP00000494568.1:p.Glu70Gln | |
| ENST00000644712.1:c.208G>C | ENSP00000496188.1:p.Glu70Gln | |
| ENST00000645451.1:c.25+1677G>C | ENSP00000494888.1:n.25+1677G>C | |
| ENST00000645793.1:c.121G>C | ENSP00000496255.1:p.Glu41Gln | |
| ENST00000647540.1:c.121G>C | ENSP00000494438.1:p.Glu41Gln | |
| ENST00000303824.11:c.121G>C | ENSP00000303221.7:p.Glu41Gln | |
| ENST00000340726.7:c.121G>C | ENSP00000342626.3:p.Glu41Gln | |
| ENST00000388740.4:c.25+1677G>C | ENSP00000373392.3:n.25+1677G>C | |
| ENST00000388741.6:c.25+1677G>C | ENSP00000373393.2:n.25+1677G>C | |
| ENST00000388742.8:c.121G>C | ENSP00000373394.4:p.Glu41Gln | |
| ENST00000388743.6:c.121G>C | ENSP00000373395.2:p.Glu41Gln | |
| ENST00000419131.5:c.121G>C | ENSP00000410176.1:p.Glu41Gln | |
| ENST00000465115.5:c.121G>C | ENSP00000428391.1:p.Glu41Gln | |
| ENST00000496494.5:n.297G>C | ||
| NM_000503.5:c.121G>C | NP_000494.2:p.Glu41Gln | |
| NM_001288574.1:c.121G>C | NP_001275503.1:p.Glu41Gln | |
| NM_001288575.1:c.-164G>C | NP_001275504.1:n.-164G>C | |
| NM_172058.3:c.121G>C | NP_742055.1:p.Glu41Gln | |
| NM_172059.3:c.121G>C | NP_742056.1:p.Glu41Gln | |
| NM_172060.3:c.25+1677G>C | NP_742057.1:n.25+1677G>C | |
| XM_011517481.1:c.196G>C | XP_011515783.1:p.Glu66Gln | |
| XM_011517482.1:c.208G>C | XP_011515784.1:p.Glu70Gln | |
| XM_011517483.1:c.121G>C | XP_011515785.1:p.Glu41Gln | |
| XM_011517484.1:c.121G>C | XP_011515786.1:p.Glu41Gln | |
| XM_011517485.1:c.121G>C | XP_011515787.1:p.Glu41Gln | |
| XM_011517486.1:c.121G>C | XP_011515788.1:p.Glu41Gln | |
| XM_011517487.1:c.121G>C | XP_011515789.1:p.Glu41Gln | |
| XM_011517488.1:c.121G>C | XP_011515790.1:p.Glu41Gln | |
| XM_011517489.1:c.61+1677G>C | XP_011515791.1:n.61+1677G>C | |
| XM_011517490.1:c.25+1677G>C | XP_011515792.1:n.25+1677G>C | |
| XM_011517491.1:c.25+1677G>C | XP_011515793.1:n.25+1677G>C | |
| XM_011517492.1:c.-164G>C | XP_011515794.1:n.-164G>C | |
| NM_172059.4:c.208G>C | NP_742056.2:p.Glu70Gln | |
| XM_011517483.2:c.121G>C | XP_011515785.1:p.Glu41Gln | |
| XM_011517484.3:c.208G>C | XP_011515786.2:p.Glu70Gln | |
| XM_017013201.1:c.208G>C | XP_016868690.1:p.Glu70Gln | |
| XM_017013202.1:c.208G>C | XP_016868691.1:p.Glu70Gln | |
| XM_017013203.2:c.208G>C | XP_016868692.1:p.Glu70Gln | |
| XM_017013204.2:c.208G>C | XP_016868693.1:p.Glu70Gln | |
| XM_017013205.2:c.208G>C | XP_016868694.1:p.Glu70Gln | |
| XM_017013206.1:c.121G>C | XP_016868695.1:p.Glu41Gln | |
| XM_017013207.2:c.208G>C | XP_016868696.1:p.Glu70Gln | |
| XM_017013208.2:c.121G>C | XP_016868697.1:p.Glu41Gln | |
| XM_017013210.2:c.208G>C | XP_016868699.1:p.Glu70Gln | |
| XM_017013211.2:c.61+1677G>C | XP_016868700.1:n.61+1677G>C | |
| XM_017013212.2:c.25+1677G>C | XP_016868701.1:n.25+1677G>C | |
| XM_017013213.1:c.-164G>C | XP_016868702.1:n.-164G>C | |
| NM_000503.6:c.121G>C MANE Select | NP_000494.2:p.Glu41Gln | |
| NM_001288574.2:c.121G>C | NP_001275503.1:p.Glu41Gln | |
| NM_001288575.2:c.-164G>C | NP_001275504.1:n.-164G>C | |
| NM_001370333.1:c.208G>C | NP_001357262.1:p.Glu70Gln | |
| NM_001370334.1:c.121G>C | NP_001357263.1:p.Glu41Gln | |
| NM_001370335.1:c.121G>C | NP_001357264.1:p.Glu41Gln | |
| NM_001370336.1:c.208G>C | NP_001357265.1:p.Glu70Gln | |
| NM_172058.4:c.121G>C | NP_742055.1:p.Glu41Gln | |
| NM_172059.5:c.208G>C | NP_742056.2:p.Glu70Gln |