Linked Data
dbSNP Id:
rs762570417
ExAC:
11:219017 C / G
gnomAD v2:
11-219017-C-G
gnomAD v3:
11-219017-C-G
gnomAD v4:
11-219017-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.219017C>G , CM000673.2:g.219017C>G | GRCh38 |
| NC_000011.9:g.219017C>G , CM000673.1:g.219017C>G | GRCh37 |
| NC_000011.8:g.209017C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382743.9:c.994G>C MANE Select | ENSP00000372191.4:p.Glu332Gln | |
| ENST00000382743.8:c.994G>C | ENSP00000372191.4:p.Glu332Gln | |
| ENST00000524564.5:c.802G>C | ENSP00000432937.1:p.Glu268Gln | |
| ENST00000525319.5:c.751G>C | ENSP00000435464.1:p.Glu251Gln | |
| ENST00000529382.5:c.568G>C | ENSP00000437216.1:p.Glu190Gln | |
| ENST00000529937.1:c.*1400G>C | ENSP00000434747.1:n.*1400G>C | |
| ENST00000532837.5:c.*707G>C | ENSP00000433899.1:n.*707G>C | |
| ENST00000532956.5:c.832G>C | ENSP00000433077.1:p.Glu278Gln | |
| NM_001017524.2:c.568G>C | NP_001017524.1:p.Glu190Gln | |
| NM_012239.5:c.994G>C | NP_036371.1:p.Glu332Gln | |
| XM_005252835.1:c.994G>C | XP_005252892.1:p.Glu332Gln | |
| XM_011519956.1:c.568G>C | XP_011518258.1:p.Glu190Gln | |
| XM_011519957.1:c.568G>C | XP_011518259.1:p.Glu190Gln | |
| XM_011519956.2:c.568G>C | XP_011518258.1:p.Glu190Gln | |
| XM_011519957.2:c.568G>C | XP_011518259.1:p.Glu190Gln | |
| XM_017017428.1:c.568G>C | XP_016872917.1:p.Glu190Gln | |
| XM_017017429.1:c.568G>C | XP_016872918.1:p.Glu190Gln | |
| XM_017017430.2:c.568G>C | XP_016872919.1:p.Glu190Gln | |
| XM_017017431.1:c.568G>C | XP_016872920.1:p.Glu190Gln | |
| XM_024448410.1:c.568G>C | XP_024304178.1:p.Glu190Gln | |
| XR_001747817.1:n.1117G>C | ||
| NM_012239.6:c.994G>C MANE Select | NP_036371.1:p.Glu332Gln | |
| NM_001370310.1:c.994G>C | NP_001357239.1:p.Glu332Gln | |
| NM_001370312.1:c.802G>C | NP_001357241.1:p.Glu268Gln | |
| NM_001370314.1:c.832G>C | NP_001357243.1:p.Glu278Gln | |
| NM_001370315.1:c.751G>C | NP_001357244.1:p.Glu251Gln | |
| NM_001370316.1:c.322G>C | NP_001357245.1:p.Glu108Gln | |
| NM_001370317.1:c.178G>C | NP_001357246.1:p.Glu60Gln | |
| NM_001370318.1:c.568G>C | NP_001357247.1:p.Glu190Gln | |
| NM_001370319.1:c.568G>C | NP_001357248.1:p.Glu190Gln | |
| NM_001370320.1:c.568G>C | NP_001357249.1:p.Glu190Gln | |
| NM_001370321.1:c.568G>C | NP_001357250.1:p.Glu190Gln | |
| NM_001370322.1:c.568G>C | NP_001357251.1:p.Glu190Gln | |
| NM_001370323.1:c.568G>C | NP_001357252.1:p.Glu190Gln | |
| NM_001370324.1:c.544-2299G>C | NP_001357253.1:n.544-2299G>C | |
| NM_001370325.1:c.544-2299G>C | NP_001357254.1:n.544-2299G>C | |
| NR_163386.1:n.1183G>C | ||
| NR_163387.1:n.1070G>C | ||
| NR_163388.1:n.1118G>C | ||
| NR_163389.1:n.1438G>C | ||
| NR_163390.1:n.1118G>C | ||
| NR_163391.1:n.1325G>C | ||
| NR_163392.1:n.1527G>C | ||
| NR_163393.1:n.1592G>C | ||
| NR_163394.1:n.1016G>C | ||
| NR_163395.1:n.1271G>C | ||
| NR_163396.1:n.1097G>C | ||
| NR_163397.1:n.903G>C | ||
| NR_163398.1:n.1016G>C | ||
| NR_163399.1:n.1417G>C | ||
| NR_163400.1:n.951G>C | ||
| NR_163401.1:n.1506G>C | ||
| NR_163402.1:n.1567G>C | ||
| NM_001017524.3:c.568G>C | NP_001017524.1:p.Glu190Gln |